Congenital disorder of glycosylation, type ib

If you have a child with congenital disorder of glycosylation type 1A (CDG-Ib), there is a chance that your other children or future children could also have CDG-Ib. Testing is available during pregnancies to determine if the baby also has CDG-Ib. Speak with your child’s geneticist if they are diagnosed with CDG-Ib to determine if testing is needed for your other children.
If you are found to be a carrier of one mutation in the gene associated with CDG-Ib, it is possible that your parents and siblings are also carriers. Speak with a genetic counselor to determine who is at risk and to help coordinate testing. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

Clinicaltrials.gov and Orpha.net are a great options to learn more about clinical trials and research projects going on in congenital disorder of glycosylation type 1B throughout the world. You can search for “congenital disorder of glycosylation” to see general studies on clinicaltrials.gov. You can also ask your doctor and/or genetic counseling to learn more about the options available to you.

PubMed (http://www.ncbi.nlm.nih.gov/pubmed) is a great resource for current publications in congenital disorder of glycosylation type 1B. Often support groups also do a great job of distributing information about research in a specific condition in easier to understand formats. Speak to your geneticist or genetic counselor to learn about other resources.

You can learn more about variants of uncertain significance through the various laboratories that offer genetic testing. Many laboratories explain their processes for interpreting variants found in their tests. There is a very strict criteria developed by the American College of Medical Genetics (ACMG). This criteria attempts to ensure that each laboratory is interpreting these variants in the same way.

Support organizations are good resources to find other people with the same condition as you. These organizations can help connect you with other families and individuals with congenital disorder of glycosylation type 1B.

The Parent Technical Assistance Center Network provides a list of training and information centers. These centers provide information on early intervention (EI) services and other training for parents who are taking care of children with disabilities. This site provides information on centers in states across the United States. You can also speak with your child’s geneticist and genetic counselor to learn about other local resources.

If your child underwent testing for congenital disorder of glycosylation type 1B and was found to have a variant of uncertain significance (VUS) in the MPI gene, it is possible that the doctor and genetic counselor will want to do more testing. This is done to try and get as much information as possible in order to have a better idea of whether the VUS is a mutation or benign. In order for a child to have this condition, they must have two mutations in the MPI gene. If one known mutation and one VUS is found, it is suspicious that the VUS is a mutation. However, we cannot say for sure. That is why more testing may be done to follow-up. The next steps are highly dependent on your family history and the results from the genetic testing. The genetic counselor will be able to explain what the next steps are if a VUS is found. Other possible testing might include analysis of biochemical testing or enzymatic testing. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

You should see specialists who are experts in rare diseases, specifically those that are rare metabolic disorders. A biochemical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website .

There is the option to have genetic testing done before you are even pregnant. This is called preimplantation genetic diagnosis (PGD). It involves invitro fertilization and testing the fertilized embryos before they are implanted. Then only the embryos that do not have the genetic mutations causing would be implanted. This can be done if the two mutations causing congenital disorder of glycosylation type 1B have been identified in the family. There is also the option to do egg or sperm donation by a donor who does not have a genetic mutation in the gene causing the condition. Speak to your geneticist or genetic counselor about coordinating this procedure and to locate a center near you.

Congenital disorder of glycosylation type 1B can be abbreviated CDG-Ib. The other common name for the condition, mannosephosphate isomerase deficiency can be abbreviated as MPI-CDG.
When reviewing websites and other information about CDG-Ib, always look for a sentence that explains the abbreviation.

The treatment for CDG-Ib is supplementation with mannose. With this treatment, individuals can have a normal life. This treatment must continue throughout life. Without the treatment, it is likely that these individuals will pass away due to the severe physical symptoms associated with the disorder. Symptoms can range from severe developmental delay and hypotonia (low muscle tone), to having hypoglycemia (low blood sugar) and an intestinal condition called (protein-losing enteropathy). This condition may lead to leaking fluid into the intestine from the lymphatic system. The lymphatic system carries fluid called lymph throughout the body. These individuals also can have diarrhea, problems with clotting.

A carbohydrate deficient transferrin (CDT) test, also called a "transferrin isoforms analysis" or "carbohydrate-deficient transferrin analysis" is a blood test. This blood test measures the levels of transferrin, an important glycoprotein needed to move iron around the body. The CDT test can help figure out if a person has one of the 75 or more genetic conditions that result in problems making important molecules called glycoproteins. These conditions are called "congenital disorders of glycoslation" (CDG). The CDT test may also pick up other conditions such as hereditary fructose intolerance, galactosemia, and acute liver disease in sick individuals. The test is considered a "screen" for CDGs as it cannot detect all congenital disorder of glycoslation and additional testing is needed to diagnosis the exact genetic condition causing a positive test. CDT testing usually identifies CDG types I and X. It does not find CDG types: CDG-IIb, CDG IIc, CDG-IIf. In addition, if a baby is tested before 2 weeks of age, the CDT test may need to be rerun as it will be less accurate that early in life. The test may also be used to test adults for alcoholism or heavy alcohol use, but this it is not the main use in someone with heath problems. There are several biochemical labs that run this test including Mayo Medical Laboratories. The CDT test is most often ordered by a medical geneticist who specializes in metabolic disease. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website .

If your child is having genetic testing done due to a biochemical or enzymatic diagnosis of congenital disorder of glycosylation type 1B (CDG-Ib), it is likely that the genetic testing will find a mutation. Enzymatic diagnosis means that your doctor has ordered testing to look at the enzyme made by the MPI gene, phosphomannose isomerase. If the enzyme is not working like expected, mutations would likely be found in the gene. In these cases where there is low enzyme activity, very close to 100% of individuals will have identifiable mutations. Speak to your doctor or genetic counselor if you have questions about the likelihood that genetic testing will find a mutation in the MPI gene.

Congenital disorder of glycosylation type 1B (CDG-Ib) is a genetic condition in which the body has problems in making glycoproteins. Glycoproteins are proteins in our bodies that have small molecules called carbohydrates attached to them. If an individual can’t form glycoproteins correctly, their body cannot grow and function well.

If not found early in life and treated, individuals have many health problems including inability to grow at the expected rate (failure to thrive), hypotonia (low muscle tone), vomiting, hypoglycemia (low blood sugar), severe diarrhea because they have an intestinal condition called "protein-losing enteropathy", easy bleeding due to problems forming blood clots, and liver disease. CDG-Ib doesn’t cause learning problems or lead to problems with the brain like other forms of congenital disorders of glycosylation.

CDG-Ib is treated by taking supplements of a sugar called mannose. This life-long therapy is requied in order to live a relatively normal life with decreased symptoms. Without this treatment these people typically pass away from life-threating disease symptoms.

The best person to figure out whether an individual has CDG-Ib is a doctor who specializes in metabolic disorders, such as a biochemical geneticist. A biochemical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website .

A mutation is when there is a change in the DNA (genetic information) that is known to be harmful or to increase the risk for or cause a particular disease. A "benign variant" is when there is a change in the DNA but it is only a change that makes people different from each other. These benign changes are not harmful and do not increase risk for a particular disease. Thus, they are called benign. A "variant of uncertain significance" is a change in the DNA, but it is unknown whether it is a mutation or a benign variant. Therefore it is uncertain whether it could be the cause of disease in your family. Until there is more information, the laboratory will call it uncertain. Once there is more information or more families tested with the same change the laboratory will determine whether it is harmful or benign. Speak to your doctor or genetic counselor if you have more questions about the different types of results.

Without proper mannose supplementation, this condition can be severe. One of the main health problems for infants with this condition is due to the weak muscles (hypotonia) and poor growth (failure to thrive). In order to ensure proper nutrition for these infants, it is likely that the child will need a nasogastric tube (NG-tube) or gastrostomy tube (G-tube). These tubes will provide nutrients to the child until he/she can get strong enough to eat on his/her own. In addition, liver and GI tract issues should be monitored. This includes enlarged liver (hepatomegaly), liver failure, liver cirrhosis, vomiting, diarrhea, and intestinal condition called protein-losing enteropathy. This condition may lead to leaking fluid into the intestine from the lymphatic system. These individuals also can have diarrhea, problems with clotting and may have bleeding episodes.

The best person to figure out whether an individual has CDG-Ib is a doctor who specializes in metabolic disorders, such as a biochemical geneticist. A biochemical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website .

When there is a mutation in both copes of the person’s MPI gene it causes congenital disorder of glycosylation type 1B (CDG-Ib) and problems for the body. The MPI gene plays a role in glycosylation. Glycosylation is the process of putting small molecules (sugars) onto proteins. This allows the proteins to carry out a bigger variety of functions. The MPI gene is called "mannose phosphate isomerase." Its job is to convert two molecules called fructose-6-phosphate and mannose-6-phosphate back and forth between each other. This is called interconversion. This interconversion helps maintain the body’s supply of mannose (a type of sugar). Mannose is required for most glycosylation reactions. When there is a mutation in the MPI gene, this interconversion cannot happen. Then it leads to not enough of the mannose molecule to go through glycosylation properly.
In order to learn more about the gene involved in CDG-Ib, people can speak with a geneticist or a genetic counselor. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

Congenital disorder of glycosylation type 1B is caused by having a mutation (or change) in both copies of an individual’s MPI gene. A gene is an instruction to our bodies on how to function and develop. The gene that has a mutations in this condition is called the MPI gene. When a person has a mutation in both copies of their MPI gene, the gene cannot work properly.
In order to learn more about the gene involved in CDG-Ib, people can speak with a geneticist or a genetic counselor. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

In the vast majority cases when a child is diagnosed with congenital disorder of glycosylation type 1B it affects the entire family not just the parents and the child with the condition. Some family members experience sadness, anger, withdrawal, and many other emotions. When coping with a genetic condition in the family it is important to encourage the open expression of thoughts and feelings. It is possible that siblings may be neglected because they feel their parents are focusing on the child with the condition. Some support groups have specific programs for siblings. Speak with your genetic counselor or geneticist about what is available for siblings of children with congenital disorder of glycosylation type 1A. Another resource is The Sibling Support Project. More information can be found her: https://www.siblingsupport.org/.

Congenital disorder of glycosylation type 1B (CDG-Ib) is a genetic condition characterized by problems in making glycoproteins. Glycoproteins are proteins in our bodies that have small molecules called carbohydrates attached to them. If an individual can’t form glycoproteins correctly, their body cannot grow and function well.

If not found early in life and treated, individuals have many health problems including inability to grow at the expected rate (failure to thrive), hypotonia (low muscle tone), vomiting, hypoglycemia (low blood sugar), severe diarrhea because they have an intestinal condition called protein-losing enteropathy, easy bleeding due to problems forming blood clots, and liver disease. CDG-Ib doesn’t cause learning problems or lead to problems with the brain like other forms of congenital disorders of glycosylation.

The best person to figure out whether an individual has CDG-Ib is a doctor who specializes in metabolic disorders, such as a biochemical geneticist. A biochemical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website .

If someone has a mutation in each of their MPI genes, that person will have the features of congenital disorder of glycosylation type 1B (CDG-Ib). However, the signs and symptoms can vary in the condition. In cases where these individuals are treated with mannose, they will likely not show any symptoms at all.
In order to learn more about the gene involved in CDG-Ib, people can speak with a geneticist or a genetic counselor. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

If someone inherits only one mutation in one copy of the MPI gene, they will not have the signs or symptoms of congenital disorder of glycosylation type 1B (CDG-Ib). They are called carriers and although they could pass the gene on, they should not have any symptoms. If their partner is also a carrier of a change in the MPI gene (has one mutation in the MPI gene), they are at a 25% risk with each pregnancy to have a child with the condition.
In order to learn more about the gene involved in CDG-Ib, people can speak with a geneticist or a genetic counselor. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

There are several options available to you and your family prenatally to diagnosis congenital disorder of glycosylation type 1B. Keep in mind that these options require a genetic diagnosis of the condition in the family in order to pursue them. That is because the specific genetic mutation must be identified in order to make sure the tests are looking at the correct mutation in the correct gene. Before a woman is pregnant, preimplantation genetic testing involves going through in vitro fertilization, testing embryos, and only returning the unaffected embryos to the uterus to grow. If a person is already pregnant, invasive prenatal diagnosis allows the family to know whether the pregnancy is affected with a certain condition or not. It involves testing the fetus during the pregnancy and looking for the mutation already identified in the family. There are two main ways to do this. The first is called chorionic villus sampling and the second is called amniocentesis. Chorionic villus sampling is typically done between 11-13 weeks gestational age. Amniocentesis is typically done after 16 weeks gestational age. In order to learn more about these reproductive options, people can speak with a geneticist or a genetic counselor. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

If your partner is known to be a carrier of a mutation in the MPI gene, you should talk to your doctor or genetic counselor about the next steps. Most likely, they will recommend full gene sequencing to look for any mutations in the entire instruction in the MPI gene. This testing is >99% accurate at determining whether you are a carrier of a mutation in the MPI gene. This testing is necessary to better determine your and your partner’s risk of having a child with congenital disorder of glycosylation type 1B.

This is an extremely rare condition and the carrier frequency across all ethnicities are unknown. In order to learn more about the gene involved in CDG-Ib, people can speak with a geneticist or a genetic counselor. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

If you have a doctor’s appointment coming up about congenital disorder of glycosylation type 1B, there are many questions that you can ask. You should write down any questions you would like to ask so that you don’t stress about remembering them. Some ideas for questions are:

As long as your child is receiving the correct treatment regimen, he or she should be able to live a healthy, normal life. However, stopping treatment at any point in life can cause symptoms to occur. You should still attend all doctor’s visits and speak to your doctor or genetic counselor in the case of any new or worsening symptoms.

Congenital disorder of glycosylation type 1B (CDG-Ib) is a variable condition. All individuals that are born with two mutations in the MPI gene will get the condition. When untreated, the number of symptoms and complications that they can have are variable. The main symptoms can range from severe developmental delay and hypotonia (low muscle tone), to having hypoglycemia (low blood sugar) and an intestinal condition called protein-losing enteropathy with normal development. However, when treated with mannose, these individuals typically show very little symptoms.
In order to learn more about the gene involved in CDG-Ib, people can speak with a geneticist or a genetic counselor. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

There is treatment available for the symptoms of congenital disorder of glycosylation type 1B (CDG-Ib). This is with mannose supplementation. Mannose is a sugar that can help make sure that the glycosylation pathway works the way it should, even when there is a mutation in the MPI gene. With this supplementation, the individual with the condition will often live a mostly normal. Without the treatment the symptoms will be severe, cause progressive damage, and the child will likely pass away.
The person who manages the treatment is typically a biochemical geneticist. Even with treatment, some health problems may develop. For this reason, it is important to be seen by a biochemical geneticist regularly. A biochemical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website .

Congenital disorder of glycosylation type 1B (CDG-Ib) is unusual in that even though it causes physical and developmental changes like developmental delay, poor growth, hypotonia, gastrointestinal issues, as well as blooding clotting issues, it does not initially cause damage to the brain.
The best person to figure out whether an individual has CDG-Ib is a doctor who specializes in metabolic disorders, such as a biochemical geneticist. A biochemical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website .

Congenital disorder of glycosylation type 1B is not a condition that is tested for on the newborn screen. However, if it is suspected at birth, testing infants is reasonable. Many laboratories offer testing for congenital disorder of glycosylation type 1B. Speak to your doctor or genetic counselor to learn more about your options for biochemical and genetic testing. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

There is currently research going into knowing more about congenital disorders of glycosylation. These research studies and clinical trials are all trying to learn more about how to better treat and take care of patients with the condition. Many of these research projects are looking at congenital disorders of glycosylation overall, as well as metabolic disorders in general. These research projects hope to learn more about the symptoms and characteristics of the disorder and how to treat it. Talk to your doctor to learn more about specific research opportunities available or contact investigators listed on clinicaltrials.gov. Search for "congenital disorder of glycosylation" to see most trials. Other places to find research studies include the following.

After both amniocentesis or chorionic villus sampling, your doctor will tell you to rest for a day or two. There is a risk of complications, including miscarriage, with both procedures since they are invasive. This can range from 1 in 300 to 1 in 500 depending on the procedure and the doctor performing the procedure. Speak with your doctor to learn more about the risks and their experiences have been.

There is no noninvasive options for prenatal testing for congenital disorder of glycosylation type 1B. For genetic disorders like congenital disorder of glycosylation type 1B that are caused by single gene mutations, once you are pregnant, only amniocentesis and CVS are available and recommended for testing. Speak with a genetic counselor to further discuss these options. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

There is a common mutation in the Saguenay-Lac Saint-Jean population in Quebec with this syndrome. This mutation is called the p.Arg295His mutation. The vast majority of individuals who test positive for congenital disorder of glycosylation type 1B in this region will have this mutation when genetic testing is done.
In order to learn more about the gene involved in CDG-Ib, people can speak with a geneticist or a genetic counselor. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

If an individual has two mutations in each copy of the MPI gene, they will have congenital disorder of glycosylation type 1B (CDG-Ib). The majority of features of congenital disorder of glycosylation type 1B occur from infancy. Although there is variability in how severely an individual will be affected, every person who has a mutation in both copies of the MPI gene is expected to have some symptoms associated with CDG-Ib.

The best person to figure out whether an individual has CDG-Ib is a doctor who specializes in metabolic disorders, such as a biochemical geneticist. A biochemical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website .

Since symptoms can occur at birth and during childhood, it is reasonable to test children for congenital disorder of glycosylation type 1B (CDG-Ib) if it is suspected. If the child has no symptoms, it is possible that the condition could develop later on in life due to the variation in ages of onset. However, it is not a routine test to test asymptomatic children for CDG-Ib.
The best person to figure out whether an individual has CDG-Ib is a doctor who specializes in metabolic disorders, such as a biochemical geneticist. A biochemical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website .

Congenital disorder of glycosylation type 1B affects both males and females equally. It is an autosomal recessive condition, meaning that males and females are at the same risk to have the condition if both parents are known to be carriers of a mutation in the MPI gene.

Congenital disorder of glycosylation type 1B (CDG-Ib) can be seen worldwide. There is a common mutation seen in the Saguenay-Lac Saint-Jean population in Quebec. However, the exact number of affected individuals is unknown.
The best person to figure out whether an individual has CDG-Ib is a doctor who specializes in metabolic disorders, such as a biochemical geneticist. A biochemical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website .

Congenital disorder of glycosylation type 1B (CDG-Ib) is an autosomal recessive genetic condition. This means that is passed down through families. It is caused by having a mutation (change) in both copies of the MPI gene. A gene is an instruction to our bodies on how to function and develop. The gene that has a mutation in this condition is called the MPI gene. When a person has a mutation in both copies of their MPI genes, the gene does not work properly.
In order to learn more about the gene involved in CDG-Ib, people can speak with a geneticist or a genetic counselor. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

If there is a family history or another suspicion for congenital disorder of glycosylation type 1B (CDG-Ib), your doctor or genetic counselor will likely recommend having full gene sequencing of the MPI gene. This means that instead of looking for specific mutations, they are looking at the entire instruction to see if there are any changes. These changes would be the mutations that cause the condition. This testing can tell you whether you have any mutations in the gene, not only the most common mutation.

In order to learn more about the testing for mutations associated with CDG-Ib, people can speak with a geneticist or a genetic counselor. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

Your doctor should know about the symptoms and characteristics of congenital disorder of glycosylation type 1B. For example, he or she should know about the main symptoms of the disease if left untreated. Symptoms of untreated disease can range from severe developmental delay and hypotonia (low muscle tone), to having hypoglycemia (low blood sugar) and an intestinal condition (protein-losing enteropathy). This condition may lead to leaking fluid into the intestine from the lymphatic system. The lymphatic system carries fluid called lymph throughout the body. These individuals also can have diarrhea and problems with clotting. Your doctor should also know about the treatment available by taking mannose supplements. Your doctor can speak with a specialist in metabolic diseases in order to expand on knowledge in order to take the best care of you possible.

Genetic counselors are experts in both genetics as well as the psychosocial implications of having a genetic condition. The genetic counselor will sit down with you and your family and go through the family history, discuss the diagnosis of congenital disorder of glycosylation type 1B, and help you work through what the diagnosis means for your family. Genetic counselors can help you talk with other family members about the diagnosis. Genetic counselors can also help you identify support resources available to you, and possibly even connect you with other families who are experiencing the same diagnosis. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

A carrier-screening panel is a genetic test used to identify people who are carriers for mutations associated with different genetic disorders. Many of these conditions are autosomal recessive disorders. The genetic conditions recommended for screening before and during pregnancy can be dependent on your ethnic background. There are many carrier-screening tests available. It is possible to test for just a few syndromes, or hundreds of syndromes at the same time. If a carrier screening includes congenital disorder of glycosylation type 1B, it may only include the three most common mutation in European individuals. Not all carrier-screening panels include this condition. Additionally, some labs require that you specifically request screening for this condition. If you are interested in having this testing done, talk with your doctor or genetic counselor to learn more.

If you have a child with congenital disorder of glycosylation type 1B (CDG-Ib) there is a chance that you could have another child with the condition if your partner is also a carrier for a change (mutation) in the MPI gene. In an autosomal recessive condition, there is a 25% (1 in 4) chance with each pregnancy for a child to be born with the condition if both parents are carriers.
In order to learn more about the inheritance of CDG-Ib, people can speak with a geneticist or a genetic counselor. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

Screening tests are not perfect. Some carrier screening tests for congenital disorder of glycosylation type 1B (CDG-Ib) only test for the most common mutation in individuals of European ethnicity. That means there is still a risk that you carry a mutation that was not tested, particularly if you are not of European ethnicity. If you have a family history of congenital disorder of glycosylation type 1B, or if there is any reason you suspect you may be a carrier, you should speak to your doctor or genetic counselor about further testing.

If you previously had a child with congenital disorder of glycosylation type 1B (CDG-Ib) that means you are most likely a carrier that condition. A carrier for a condition means that they have one mutation in one copy of the gene causing congenital disorder of glycosylation type 1B, MPI. Carriers of these types of conditions do not typically show signs or symptoms of that condition. However, they are at risk (25% or 1 in 4) to have another child with the condition if their partner also is a carrier for a change or mutation in the MPI gene.
In order to learn more about the gene involved in CDG-Ib, people can speak with a geneticist or a genetic counselor. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

We all inherit two copies of each of our genes from our parents. One copy comes from our mother and one comes from our father. Congenital disorder of glycosylation type 1B (CDG-Ib) is inherited in an autosomal recessive manner. This means that both copies of the MPI gene must contain a mutation in order to show symptoms of the condition.
In order to learn more about the gene involved in CDG-Ib, people can speak with a geneticist or a genetic counselor. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

Laboratories follow the guidelines recently made by the American College of Medical Genetics (ACMG). These guidelines tell the labs what evidence and information they need in order to classify variants in one of those categories. These updated recommendations were just recently made in March 2015, so it is possible that websites or other research may use the old terms. If you have questions about variant classification, speak with your genetic counselor or the doctor who ordered your genetic testing.

Congenital disorder of glycosylation type 1B may be suspected based on clinical features. The diagnosis is confirmed by biochemical or genetic testing. Geneticists and genetic counselors will likely do a full evaluation, which will include a discussion of birth history, medical history, and developmental history. The geneticist will perform a physical exam. This is done because there may be additional recommendations or specialists they will refer you to for the best care possible. Speak with your child’s pediatrician if you are concerned that he or she may have CDG-Ib. The best person to figure out whether an individual has CDG-Ib is a doctor who specializes in metabolic disorders, such as a biochemical geneticist. A biochemical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website .

Congenital disorder of glycosylation type 1B can be a life-threatening illness without treatment. Many times when someone in the family is diagnosed with a condition like congenital disorder of glycosylation type 1B, many family members can be upset, angry, confused, and many more. Having to go through doctors’ visits, potentially genetic counseling and genetic testing, mannose treatments, plus many more appointments can be very stressful and increase anxiety for the family. Your doctor and/or genetic counseling can help you identify resources available in order to meet your family’s specific needs during this time.

Many support groups for families and patients with congenital disorder of glycosylation type 1B recommend that parents need to give their children information about their diagnosis. This should be in terms that your child can understand. This includes answering questions as directly and truthfully as possible. A genetic counselor can help you talk with your child about their condition in terms that they understand.

Starting a support group is a great idea and a great help to families and individuals experiencing the same issues and symptoms of the condition. If you are interested in starting a support group of your own, a good place to start is by speaking to the support groups and organizations already founded. They likely can provide information about people near you that are interested in creating a support group.

One of the best ways to help continue research in congenital disorder of glycosylation type 1B is to donate to various foundations. For example, one of the foundations is called Climb National Information Centre for Metabolic Diseases and it accepts donations to continue their work. There are many other foundations focused on helping individuals with rare metabolic disorders and rare gastrointestinal conditions. Links are found below for some of these organizations. You can also donate your time as a volunteer for some of the organizations. VolunteerMatch.org offers opportunities available for volunteer work.

Testing for congenital disorder of glycosylation type 1B can be ordered by your doctor or genetic counselor. There is genetic testing and biochemical testing that can be performed. There are many laboratories that offer genetic testing for the condition. It involves either a blood or saliva sample. Results take about 4-12 weeks depending on the laboratory.
The best person to figure out whether an individual has CDG-Ib is a doctor who specializes in metabolic disorders, such as a biochemical geneticist. A biochemical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website .

To find a center of excellence in congenital disorder of glycosylation type 1B, you can go to the National Organization for Rare Disorders (NORD) website which provides information on centers of excellence for many rare conditions. Additionally, Orpha.net lists centres of expertise worldwide to find doctors and specialists who are experts in the condition. Another option is to search for a metabolic dietitian in your area who can direct you to a center of excellence.

Congenital disorder of glycosylation type 1B (CDG-Ib) is an extremely rare genetic condition. Overall, all congenital disorders of glycosylation are thought to affect about 1 in 50,000 to 1 in 100,000. However congenital disorder of glycosylation type 1B itself is unknown since it is so rare. There have been approximately 20 individuals described in the literature with CDG-Ib.
The best person to figure out whether an individual has CDG-Ib is a doctor who specializes in metabolic disorders, such as a biochemical geneticist. A biochemical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website .

Different sample types are used for different types of testing for congenital disorder of glycosylation type 1B (CDG-Ib). Genetic testing may be performed on either blood or saliva. There are no differences in the accuracy of the genetic testing if blood or saliva is used. Many laboratories offer both blood or saliva for testing. The testing is completed in the same way for both blood and saliva. Biopsies are typically not needed for the diagnosis of CDG-Ib. Speak with your doctor about what types of tests are being performed and what samples are needed for the testing.

The majority of features of congenital disorder of glycosylation type 1B occur from infancy. They are not caused by anything a person eats or is exposed to outside. Treatment involves supplements of the sugar called mannose. This allows the formation of the mannose sugar (glycosylation) to work how we would expect it to. With mannose supplements, these individuals tend to lead very fairly normal lives. However, not taking this supplement can cause the disorder to become very severe and likely lead to death. Symptoms can range from severe developmental delay and hypotonia (low muscle tone), to having hypoglycemia (low blood sugar) and an intestinal condition called protein-losing enteropathy. This may lead to leaking fluid into the intestine from the lymphatic system. These individuals also can have diarrhea, problems with clotting.
The best person to figure out whether an individual has CDG-Ib is a doctor who specializes in metabolic disorders, such as a biochemical geneticist. A biochemical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website .

Amniocentesis and chorionic villus sampling are ways to identify whether the pregnancy is affected with congenital disorder of glycosylation type 1B (CDG-Ib) before the baby is born. Both involve looking at the genes and try to find the exact mutation that was already found in the family. Chorionic villus sampling (CVS) is typically done before 11-13 weeks of gestational age. CVS if performed using the help of an ultrasound in order to find where the baby and the placenta are located. It usually can be done either "transabdominally" or "transcervically." "Transabdominally" means that the doctor will insert a needle into the woman’s abdomen and take a small sample of the chorionic villi. Chorionic villi are a part of the placenta and usually shares the same genetic information as the baby. If it is done "transcervically," the doctor will insert a catheter into the cervix and take a sample of the chorionic villi.

Amniocentesis is typically done beginning at 16 weeks of gestational age. It is often called amnio for short. The amnio involves the doctor inserting a needle into the abdomen with the help of an ultrasound. The doctor takes a sample of the amniotic fluid that is floating around the baby. The amniotic fluid has the baby’s skin cells floating around in it that have fallen off during development. The sample looks directly at these skin cells to get the genetic information.
For both procedures, the mutations in MPI causing the condition in your family must be known. Speak to your metabolic physician or genetic counselor about how to coordinate prenatal genetic testing.

Symptoms associated with congenital disorder of glycosylation type 1B (CDG-Ib) cannot be detected on prenatal ultrasound. Symptoms of this condition tend to appear between 2-12 months of age. There are no characteristic facial features like in some of the other forms of congenital disorders of glycosylation. Therefore, if your family is at risk to have a pregnancy affected with congenital disorder of glycosylation type 1B, invasive diagnostic testing is the only way during pregnancy to detect the condition as ultrasound is not able to detect the symptoms. In order to learn more prenatal testing for CDG-Ib, people can speak with a geneticist or a genetic counselor. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

Currently the MPI gene is the only gene known to cause congenital disorder of glycosylation type 1B (CDG-Ib). The best person to figure out whether an individual has CDG-Ib is a doctor who specializes in metabolic disorders, such as a biochemical geneticist. A biochemical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website .

Treatments for congenital disorder of glycosylation type 1B related symptoms are not organ specific. Mannose supplements are used for all of the symptoms seen in this condition.
The person who manages the treatment is typically a biochemical geneticist. A biochemical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website .

Congenital disorder of glycosylation type 1B is one of the most commonly used names but there are other names for it as well. Other names include:

There are several support groups available for individuals with conditions like congenital disorder of glycosylation type 1B. Many are metabolic disorders support groups.

There are a few testing options available for congenital disorder of glycosylation type 1B (CDG-Ib).

There is currently only one known type of congenital disorder of glycosylation type 1B (CDG-Ib). Typically, individuals start showing symptoms beginning between 2-12 months of age. There are some older adults who have presented with slightly different symptoms, such as hyperinsulinemic hypoglycemia (low blood sugar with high levels of insulin) and liver failure.

The best person to figure out whether an individual has CDG-Ib is a doctor who specializes in metabolic disorders, such as a biochemical geneticist. A biochemical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website .

Many support organizations have resources designed for caregivers. A group resource specific to metabolic disorders like congenital disorder of glycosylation type 1B is through http://www.climb.org.uk/. This resources offers advice and support to children, young people, adults, families, and healthcare professionals about metabolic diseases. They offer support and information to families worldwide even though they are based on the UK. They provide a “contact us” service where you can learn more about the organization and how caregivers can get personalized support.

Individuals with only one mutation in MPI are not at risk to have any signs or symptoms of congenital disorder of glycosylation type 1B (CDG-Ib). However, they are at increased risk to have a child with the condition. If the partner is also found to have one mutation in the MPI gene, they are at a 25% risk with each pregnancy to have a child with the condition.
In order to learn more about the recurrence risk for CDG-Ib and different reproductive options, people can speak with a geneticist or a genetic counselor. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

There are over 40 genetic conditions that are caused by mutations in genes involved in the glycosylation pathway, but other congenital disorders of glycosylation often have different symptoms. Congenital disorder of glycosylation type 1B (CDG-Ib) may have overlap with other disorders that have failure to thrive, diarrhea, hypoglycemia and liver failure as main symptoms. If you are concerned about these symptoms, speak to your doctor or your child’s doctor for evaluation by a metabolic physician or a gastroenterologist.