2-methylbutyrylglycinuria

Because 2-Methylbutyrylglycinuria disease is inherited in an autosomal recessive manner, testing mom and dad of the affected child can identify the specific changes in the ACADSB gene.

Testing siblings of the affected child is important to help identify 2-Methylbutyrylglycinuria disease at an early age.

Aunts and uncles of the affect child (siblings of the parents) can be tested for the specific variants in the ACADSB gene. If they are found to be carriers, their partners can also be tested to find out if they are also carriers. A genetic counselor can help determine who in the family should have testing for the specific variants identified. A genetic counselor in the area can be found on the National Society of Genetic Counselor’s “Find a Genetic Counselor” page of the website.

Because 2-Methylbutyrylglycinuria disease is such a rare syndrome, it may be difficult to find a family with the exact same changes in their gene. Families should know each patient with 2-Methylbutyrylglycinuria disease will have unique features along with the common features. Finding other families with 2-Methylbutyrylglycinuria disease may be very helpful. Patients can look into the Organic Acidemia Association to find other families with the same condition.

2-Methylbutyrylglycinuria disease is currently controlled by diet, so the most important specialist for these patients to see would be a nutritionist or a dietitian. This is a specialist they should see regularly to monitor their amino acid and organic acid levels, so they can modify their diet as needed. A registered dietician can be found through the "Find and Expert" feature on the Academy of Nutrition and Dietetics.
Patients may also want to speak with a genetic counselor and a medical geneticist with experience treating 2-Methylbutyrylglycinuria disease. A genetic counselor in the area can be found on the National Society of Genetic Counselor’s “Find a Genetic Counselor” page of the website. A medical geneticist can be found by searching the American College of Medical Genetics website.

Most of the “organic acidemias” are similar. If a child has an uneventful period, and then has some features including low muscle tone, delayed growth, and lethargy, testing amino acids is something that should be considered. Once the proper tests are run, health professionals should be able to diagnose the condition. The best person to help find out if someone has 2-Methylbutyrylglycinuria disease is a physician with special training in biochemical genetics. These specialists can be found by talking to a family practice or general physician or by searching the American College of Medical Genetics.

The usual abbreviation for 2-Methylbutyrylglycinuria is 2-MBG. It is important to always look for a sentence that says they are shortening 2-Methylbutyrylglycinuria to "2-MBG" in an article, webpage, or other document to avoid any confusion.

2-Methylbutyrylglycinuria is also called 2-MBG and is an inherited metabolic disorder. Metabolism is the process the body uses to get or make energy from food. If someone has a metabolic disorder, the body is not able to properly breakdown food to make energy. People with 2-MBG are not able to break down an amino acid called isoleucine.

The body uses chemicals called enzymes to break down food. The enyzme used to break down isoleucine is called 2-methylbutyryl-CoA dehydrogenase. Patients with 2-MBG do not make enough of this enzyme. This can lead to a lack of energy for the body to use and a build up of isoleucine. If the body has too much isoleucine, it can be harmful and can cause symptoms of 2-MBG. The symptoms of 2-MBG can be different for everyone. They include sleepiness, poor appetite, irritability, fever, vomiting and weakness. These symptoms can occur when someone has gone too long without eating, had a meal with too much protein, or has an illness such as the flu.

2-Methylbutyrylglycinuria may have early signs such as poor feeding, lack of energy, vomiting, irritable mood, and low muscle tone (hypotonia). If this syndrome goes undiagnosed the child may have learning disabilities, muscle weakness, delays in motor skills (standing or walking). In severe cases, a child may start having seizures and go into a coma. Patients can ask their doctor about any symptoms they or their child might be experiencing if they are concerned about 2-Methylbutyrylglycinuria disease.

The ACADSB gene codes for a protein called 2-methylbutyryl-CoA dehydrogenase. This protein’s job is to act as an enzyme, which is a specific protein that regulates a pathway. In this case, this particular enzyme is involved in the breakdown of isoleucine. When a change in this gene is present, the function of this enzyme does not work as well or is not produced in a sufficient quantity. This leads to the build-up of isoleucine and the deficiency in energy that is produced from breaking down isoleucine. In order to learn more about how ACADSB gene changes affect a patient, people can ask a genetic counselor or medical geneticist about the specific types of changes in this gene.

Most cases of 2-Methylbutyrylglycinuria or 2-MBG are caused by genetic changes in the ACADSB gene. A genetic counselor or medical geneticist can help determine if testing of the ACADSB gene is necessary for a patient. A genetic counselor in the area can be found on the National Society of Genetic Counselor’s “Find a Genetic Counselor” page of the website. You can find a medical geneticist by searching the American College of Medical Genetics website.

Everyone inherits two copies of each gene, one from the father and one from the mother. To inherit a variant in a gene means that one of the patient’s parents also have that same variant. Since 2-Methylbutyrylglycinuria disease is an autosomal recessive syndrome, a child would have to inherit one variant from mother and one variant from father in the same gene to have features of this syndrome. Parents may have this variant and not know it, because they would not have features of the syndrome. To find out if a particular variant has been inherited, patients can speak to genetic counselor or medical geneticist. A genetic counselor in the area can be found on the National Society of Genetic Counselor’s “Find a Genetic Counselor” page of the website. You can find a medical geneticist by searching the American College of Medical Genetics website.

To have a variant in the gene that causes 2-Methylbutyrylglycinuria disease means that one of the copies of this gene is different in some way than the general population. Since 2-Methylbutyrylglycinuria disease is inherited in an autosomal recessive pattern, having one variant within the gene that causes 2-Methylbutyrylglycinuria disease will not affect the individual. The only time a patient will start having features of 2-Methylbutyrylglycinuria disease is when they have a variant in both copies of the ACADSB gene. A genetic counselor can explain specific variants in the gene. A genetic counselor in the area can be found on the National Society of Genetic Counselor’s “Find a Genetic Counselor” page of the website.

There are several other names that 2-Methylbutyrylglycinuria can be called. These are:

Since 2-Methylbutyrylglycinuria or 2-MBG is caused by the build-up of isoleucine, symptoms will appear gradually. The first signs of 2-MBG are poor feeding, lack of energy, vomiting, irritable mood, low muscle tone (hypotonia), delayed growth, and developmental delays. Sometimes these symptoms can evolve into more serious symptoms such as difficulty breathing, seizures, coma, and learning disabilities. Fortunately, 2-MBG can be caught through a blood test performed on infants called newborn screening. If 2-MBG is diagnosed early enough, symptoms may never develop if properly controlled with diet. The best person to help find out if someone has 2-Methylbutyrylglycinuria disease is a physician with special training in biochemical genetics. These specialists can be found by talking to a family practice or general physician or by searching the American College of Medical Genetics.

The first steps after being diagnosed with 2-Methylbutyrylglycinuria disease are to talk with a doctor about treatment options. Usually these involve a change to a different diet right away. Parents of infants with 2-Methylbutyrylglycinuria disease can talk to their child’s doctor about special baby formulas and foods that are made for children with 2-Methylbutyrylglycinuria disease.

Some children born with 2-Methylbutyrylglycinuria disease may have severe symptoms that require significant treatment while others may have no symptoms at all. Each family with 2-Methylbutyrylglycinuria disease can have very different experiences, however with early diagnosis and treatment many children with 2-Methylbutyrylglycinuria disease will live a normal life. A genetic counselor or medical geneticist can provide guidance for what to expect in each family with 2-Methylbutyrylglycinuria disease. A genetic counselor in the area can be found on the National Society of Genetic Counselor’s “Find a Genetic Counselor” page of the website. A medical geneticist can be found by searching the American College of Medical Genetics website.

A unique feature of 2-Methylbutyrylglycinuria is that if it is diagnosed early and treatment begins, the child will generally not have symptoms of the disease. In order to make an early diagnosis of 2-Methylbutyrylglycinuria disease, parents can talk to their doctor about having all necessary tests in the newborn period.

As of March 2019, there are no specific clinical trials for 2-Methylbutyrylglycinuria. Patients can talk to their doctor to find out if there are any new clinical trials available. Patients can also look online at clinicaltrials.org and search for "2-Methylbutyrylglycinuria disease".

The current treatment for 2-Methylbutyrylglycinuria disease is a low protein diet. By getting rid of protein in the diet, this will eliminate the amount of isoleucine in the body. Doctors may recommend that infants have special baby formulas or foods designed for children with 2-Methylbutyrylglycinuria disease. Some doctors may also want to give the child L-carnitine supplements. This supplement is something our body naturally produces that is involved in breaking down harmful substances in our body. If the diet is given to the patient early enough, they may never have any features of 2-Methylbutyrylglycinuria disease.
Parents of children with 2-Methylbutyrylglycinuria disease may want to speak with a dietician or nutritionist to help plan a low-protein diet that is still rich in nutrients needed for proper growth and development. A registered dietician can be found through the "Find and Expert" feature on the Academy of Nutrition and Dietetics.

Ideally, 2-Methylbutyrylglycinuria disease patients should have their syndrome mostly controlled by diet (prescribed by a nutritionist). If this is caught early enough, this patient will most likely no need to be treated any different than any other person in the general population. If this is something that has gone undiagnosed, the patient may have developmental delays and in a more rare and serious case start having seizures. If a patient starts having these symptoms, they should be seen by a health professional that can test the patient’s blood and urine accurately. Patients may want to work with a medical geneticist to help coordinate all needed care. A medical geneticist can be found by searching the American College of Medical Genetics website.

2-Methylbutyrylglycinuria disease is inherited in an autosomal recessive manner. This means that the patient that has 2-Methylbutyrylglycinuria disease must have a change in both copies of their ACADSB gene. If they only have one change and the other gene is unaffected, they will be considered a carrier, but will not have any features of 2-Methylbutyrylglycinuria disease. To find out how 2-Methylbutyrylglycinuria disease has been inherited in a particular family, patients can speak to a genetic counselor or medical geneticist. A genetic counselor in the area can be found on the National Society of Genetic Counselor’s “Find a Genetic Counselor” page of the website. You can find a medical geneticist by searching the American College of Medical Genetics website.

A support group can be helpful for other families affected by Organic Acidemias. If a support group does not exist in your area, the Organic Acidemia Association may be able to help a family start a support group.

The Organic Acidemia Association would be a great resource to direct patients that would like to donate money toward research, especially because of how rare these diseases are.

2-Methylbutyrylglycinuria disease is usually identified on the newborn screening test. This is a blood test that looks for certain diseases in all newborns right after they are born. If an infant tests positive for 2-Methylbutyrylglycinuria disease, follow up testing is required to have a positive diagnosis. This follow up testing involves testing the baby’s blood and urine for high levels of certain amino acids and toxins. Signs of 2-Methylbutyrylglycinuria disease include high levels of C5 acylcarnitine in the blood and high levels of organic acids in the urine. Health professionals may also perform testing on a small sample of skin.

Healthcare professionals can also perform genetic testing, or testing on the DNA of a patient with 2-Methylbutyrylglycinuria disease. Genetic testing can analyze the ACADSB gene and identify the changes that cause 2-Methylbutyrylglycinuria disease. In order to learn more about newborn screening and the tests performed to diagnose 2-Methylbutyrylglycinuria disease patients can visit the Baby’s First Test website.

New clinical trials become available all the time. Patients can talk to their doctor to find out if there are any new clinical trials available. [link url="Clinicaltrials.gov” target=”_blank”>Clinicaltrials.gov is also a great resource to search throughout the United States for active clinical trials.

Since 2-Methylbutyrylglycinuria disease is so rare, it may be difficult to find centers that specialize in this syndrome. The American College of Medical Genetics Clinic Services Search Engine is a resource that patients and doctors can use to locate health specialists that specialize in treating specific syndromes.

2-Methylbutyrlglycinuria or 2-MBG is a rare condition. It is not known how common 2-MBG is in the majority of populations. However, 2-MBG is seen in about 1 in 250 to 1 in 500 people with Hmong ancestry. A genetic counselor or medical geneticist can help people understand how frequently 2-MBG has been seen in patients of a specific ethnicity. A genetic counselor in the area can be found on the National Society of Genetic Counselor’s “Find a Genetic Counselor” page of the website. You can find a medical geneticist by searching the American College of Medical Genetics website.

If 2-Methylbutyrylglycinuria disease goes undiagnosed and the child starts eating food with isoleucine in it, symptoms of 2-Methylbutyrylglycinuria disease will result. It is very important that this syndrome is diagnosed early, because if the patient starts the right diet early, he or she may never have symptoms.

Generally, features of this syndrome are triggered by long periods without food, infections, or eating a lot of foods that are enriched in protein (most likely containing isoleucine). Patients with 2-Methylbutyrylglycinuria disease can ask their doctor for specific diet recommendations to reduce the chance of symptoms appearing.

There are no organ specific treatments required to treat 2-Methylbutyrylglycinuria disease. Patients should talk to their doctor or specialist to make sure they are using all of the necessary treatments.

Finding other families with 2-Methylbutyrylglycinuria disease may be very helpful. Patients can look into the Organic Acidemia Association, a ThinkGenetic Advocacy Partner, for support resources.

There are no known cases of 2-Methylbutyrylglycinuria disease that are not genetic. A genetic counselor or medical geneticist can help find the specific genetic causes of 2-Methylbutyrylglycinuria disease. A genetic counselor in the area can be found on the National Society of Genetic Counselor’s “Find a Genetic Counselor” page of the website. You can find a medical geneticist by searching the American College of Medical Genetics website.

Like most metabolic syndromes, patients with 2-Methylbutyrylglycinuria can have symptoms at a young age. This is because the body can only handle so much built up isoleucine before signs of this syndrome will start appearing. Since this syndrome is so rare, there have not been many reported cases. Cases that have been reported happen in infancy. Patients can ask their doctor about any symptoms they or their child might be experiencing if they are concerned about 2-Methylbutyrylglycinuria disease.

Testing involves testing both the blood and urine of the child. Blood and urine may have different levels of organic acids which is why it is important to test both. Patients can talk to their primary doctor or a medical geneticist to make sure all appropriate tests have been performed.

Though there are typical features seen in patients with 2-Methylbutyrylglycinuria, each case is slightly different. It is possible that some patients with 2-Methylbutyrylglycinuria are never diagnosed because they do not show symptoms. Because this syndrome is so rare it is not clear how common certain features are. In order to find out if a particular symptom is related to 2-Methylbutyrylglycinuria, patients can talk to their main doctor or a medical geneticist.