3-methylcrotonyl-coa carboxylase deficiency (3-MCC)

Because of how 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC) is inherited, and how variable the expression of this syndrome is, it is possible your doctor may recommend testing other people in your family. The siblings of a person with 3-MCC deficiency have a 25% chance of also having 3-MCC deficiency.
In order to learn more about testing for family members, people can speak with a geneticist or a genetic counselor. A genetic counselor can be found through the National Society of Genetic Counselors and using the Find A Genetic Counselor search.

You may be able to find other people who have 3-Methylcrotonyl-CoA Carboxylase (3-MCC) deficiency through the Organic Acidemia Association, a ThinkGenetic Advocacy Partner, at http://www.oaanews.org/. You can also speak with your biochemical geneticist to meet other people with 3-MCC deficiency.

Taking care of someone with a long-term or chronic condition can be tiring and challenging and this is no different for parents or other caregivers of people with 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC). If you are a caregiver in need of support, try to take time for yourself, set aside time for personal counseling, or look for other resources at the Caregiver Action Network. This organization works to improve the quality of life for people who care for loved ones with chronic conditions, disabilities, disease, or the frailties of old age. Support groups can also help provide support and advice for caregivers. Support groups for 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC) syndrome include: The Organic Acidemia Association.

There is significant variability in how severely a person with 3-Methylcrotonyl-CoA Carboxylase (3-MCC) deficiency will be affected. Some people have symptoms within the first year of life, and some people never have symptoms. It is not possible to predict who will have symptoms.
The best person to figure out whether an individual has 3-MCC deficiency is a doctor who specializes in metabolic disorders, such as a biochemical geneticist. Biochemical geneticists can be found in an area by using the "Find Genetic Service" function at the American College of Medical Genetics website at Find Genetic Service.

A person with 3-Methylcrotonyl-CoA Carboxylase (3-MCC) deficiency should be seen by a doctor called a "medical geneticist", "metabolic physician" or "biochemical geneticist". These specialists are familiar with 3-MCC deficiency. If your child has had a positive newborn screening test for 3-MCC deficiency, the newborn screening program in your state will be able to refer you to a metabolic geneticist.

Maternal 3-Methylcrotonyl-CoA Carboxylase (3-MCC) deficiency occurs when a mother who has 3-MCC deficiency has a child. The baby may have an abnormal newborn screen for 3-MCC deficiency due to the biochemical differences which have been passed to the baby through the placenta and in breast milk. This is not harmful for the baby. However, this is one way that some women are found to have 3-MCC deficiency. If your child has an abnormal newborn screen for 3-MCC deficiency, the mother may be tested to see if she has 3-MCC deficiency.
The best person to figure out whether an individual has 3-MCC deficiency is a doctor who specializes in metabolic disorders, such as a biochemical geneticist. Biochemical geneticists can be found in an area by using the "Find Genetic Service" function at the American College of Medical Genetics website at Find Genetic Service.

3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency is a metabolic disorder that prevents the body from processing a specific amino acid (protein building block) called leucine. Patients will appear healthy at birth, but may develop signs of 3-MCC deficiency in infancy or early childhood.
The best person to figure out whether an individual has 3-MCC deficiency is a doctor who specializes in metabolic disorders, such as a biochemical geneticist. Biochemical geneticists can be found in an area by using the "Find Genetic Service" function at the American College of Medical Genetics website at Find Genetic Service.

If a person is diagnosed with 3-Methylcrotonyl-CoA Carboxylase (3-MCC) deficiency, they should be carefully followed by a biochemical geneticist (a doctor who specializes in metabolic disorders). Individuals with 3-MCC deficiency do not typically have health problems, however when they are sick, they can have a "metabolic decompensation". When a person has a "metabolic decompensation", they can have lethargy, poor feeding and metabolic abnormalities which can lead to coma and death if not treated promptly. Speak with your biochemical geneticist to discuss what symptoms to watch for in 3-MCC deficiency.

Both the MCCC1 and MCCC2 genes code for parts of the enzyme called 3-methylcrotonyl-coenzyme A carboxylase (3-MCC). It is involved in the fourth step in processing the amino acid (protein building block), leucine. Changes within these genes cause the 3-MCC enzyme to not function properly. Because the enzyme cannot work properly, abnormal chemicals are present in the blood and urine. These can be toxic to the body and lead to metabolic problems.
The best person to figure out whether an individual has 3-MCC deficiency is a doctor who specializes in metabolic disorders, such as a biochemical geneticist. Biochemical geneticists can be found in an area by using the "Find Genetic Service" function at the American College of Medical Genetics website at Find Genetic Service.

3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC) is caused by mutations in either the MCCC1 gene or the MCCC2 gene. In order to have 3-MCC deficiency, individuals must have mutations in both copies of the same gene. In other words, both copies of either the MCCC1 gene or the MCCC2 gene must have mutations.
In order to learn more about the genes involved in 3-MCC deficiency, people can speak with a geneticist or a genetic counselor. A genetic counselor can be found through the National Society of Genetic Counselors and using the Find A Genetic Counselor search.

To have inherited a “variant” in the gene for 3-Methylcrotonyl-CoA Carboxylase (3-MCC) Deficiency means that a genetic difference in either MCCC1 or MCCC2 is also present in one of an individual’s parents.
In order to learn more about genetic variants in 3-MCC deficiency, people can speak with a geneticist or a genetic counselor. A genetic counselor can be found through the National Society of Genetic Counselors and using the Find A Genetic Counselor search.

A child with 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC) syndrome demands a lot of time and focus from parents. Although studies have shown that siblings of children with chronic illness tend to develop strong levels of compassion and empathy, these studies have also shown that siblings can develop feelings of jealousy and anger and high levels of anxiety. It is possible for healthy siblings to feel as if they have been pushed aside when parents focus more of their efforts on their child with a chronic illness. Parents should encourage healthy siblings to discuss their concerns and feelings about living with a sibling with a chronic illness. It is important for parents to acknowledge and address these concerns with their healthy children. Healthy siblings can feel more included in the family structure when they help with the care of their sick sibling. Parents are encouraged to make time for activities specifically for healthy siblings. Some siblings may benefit from support outside of the immediate family, such as meeting with a therapist. The Sibling Support Project is a nonprofit organization that serves the concerns and needs of siblings of people with special health, developmental, and mental health needs. There are also regional support groups for siblings of children with serious health conditions. Your child’s pediatrician or your local hospital may be able to tell you if this type of support group is available in your area.

As with most metabolic syndromes, patients with 3-Methylcrotonyl-CoA Carboxylase (3-MCC) deficiency will most likely appear healthy when they are first born. Symptoms of 3-MCC deficiency may start occurring during infancy or early childhood. Typically, an individual is healthy and does not have any symptoms of the disorder. However, when a person with 3-MCC deficiency is sick or not eating well, they may have symptoms. These symptoms may include lethargy (excessive tiredness), poor feeding, vomiting, low blood sugar (hypoglycemia) and metabolic abnormalities (ketoacidosis or lactic acidosis). If a person with 3-MCC deficiency is not treated promptly, they may go into a coma or could even die. The symptoms can be extremely variable, and some people with 3-MCC deficiency never experience symptoms. The majority of babies identified on newborn screening are asymptomatic. It is not possible for doctors to predict which patients with 3-MCC will become symptomatic.
The best person to figure out whether an individual has 3-MCC deficiency is a doctor who specializes in metabolic disorders, such as a biochemical geneticist. Biochemical geneticists can be found in an area by using the "Find Genetic Service" function at the American College of Medical Genetics website at Find Genetic Service.

Some people with 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC) have symptoms that begin in infancy while others never have symptoms. 3-MCC can cause episodes of metabolic crisis which can cause poor appetite, lack of energy, irritability or behavior changes, weakness, nausea and/or vomiting. If these crises are not treated it may cause developmental delay, seizures, liver failure, coma, or death. Metabolic crisises are most often caused by illness or infection, fasting (going without food), and/or eating a lot of protein.

3-Methylcrotonyl-CoA Carboxylase (3-MCC) deficiency is unique because of the variability. Some people have signs and symptoms of the disorder, and others are asymptomatic throughout their lives. It is not possible to predict who will or will not develop symptoms.
Additionally, the biochemical markers that are seen in the blood and urine of somebody who has 3-MCC deficiency distinguish it from other metabolic disorders.
The best person to figure out whether an individual has 3-MCC deficiency is a doctor who specializes in metabolic disorders, such as a biochemical geneticist. Biochemical geneticists can be found in an area by using the "Find Genetic Service" function at the American College of Medical Genetics website at Find Genetic Service.

3-Methylcrotonyl-CoA Carboxylase (3-MCC) deficiency is included on newborn screening in many states and countries. Newborn screening is not diagnostic, though, so biochemical testing can also be performed for newborns. In order to see what disorders are on newborn screening in your state, you can look at this website: http://www.babysfirsttest.org/.

There are no active clinical trials specifically focusing on only 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC). You can always check at https://clinicaltrials.gov/ to see what trials are going on at any time.

There are several tests that can be performed to diagnose a person with 3-Methylcrotonyl-CoA carboxylase (3-MCC) deficiency.

Treatment for 3-Methylcrotonyl-CoA Carboxylase (3-MCC) deficiency is not standardized. Different metabolic centers have different treatment plans for people with 3-MCC deficiency. Treatment may include:

Since newborn screening began identifying children with 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC) it has been discovered that some children will have symptoms in infancy and others will never have symptoms. Your child may or may not have symptoms.

If you have 3-Methylcrotonyl-CoA Carboxylase (3-MCC) deficiency, your doctor should know about the different treatment options and the different possible complications that can be seen. Biochemical geneticists can be found in an area by using the "Find Genetic Service" function at the American College of Medical Genetics website at Find Genetic Service.

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 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC), 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. To learn more about genetic counselors and to find one near you visit the National Society of Genetic Counselors webpage.

3-Methylcrotonyl-CoA Carboxylase (3-MCC) deficiency is a genetic disorder. It is caused by mutations in either the MCCC1 gene or the MCCC2 gene. It is inherited in an autosomal recessive pattern. This means that a person must have mutations in both copies of the gene in order to have the disorder. Most likely, one copy of the mutation was inherited from the person’s mother, and the other copy of the mutation was inherited from the person’s father.
In order to learn more about the inheritance of 3-MCC deficiency, people can speak with a geneticist or a genetic counselor. A genetic counselor can be found through the National Society of Genetic Counselors and using the Find A Genetic Counselor search.

Starting a support group is a great idea and a great way to help 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.

The Organic Acidemia Association http://www.oaanews.org/ is the major support group for people with 3-Methylcrotonyl-CoA Carboxylase deficiency (3-MCC). You can donate money at their website, or you can contact them for other ideas about where to make donations.

In order to be tested for 3-Methylcrotonyl-CoA Carboxylase (3-MCC) deficiency, blood and urine testing is performed. Specific blood and urine testing look for biochemical differences that are seen in people with 3-MCC deficiency. Because the blood and urine testing can sometimes be inconclusive, genetic testing for mutations in the two genes associated with 3-MCC deficiency MCCC1 and MCCC2 is often performed.
The best person to figure out whether an individual has 3-MCC deficiency is a doctor who specializes in metabolic disorders, such as a biochemical geneticist. Biochemical geneticists can be found in an area by using the "Find Genetic Service" function at the American College of Medical Genetics website at Find Genetic Service.

http://Clinicaltrials.gov is a great resource to look for new clinical trials happening across the country.

If your child was diagnosed through newborn screening, the newborn screening program in your state will refer you to a specialist in 3-Methylcrontyl-CoA Carboxylase (3-MCC) deficiency.

Other lists of specialists treating 3-MCC deficiency can be found at these websites:

3-Methylcrotonyl-CoA Carboxylase (3-MCC) deficiency is one of the most common metabolic disorders. The incidence of 3-MCC deficiency is approximately 1 in 36,000 births.
In order to learn more about 3-MCC deficiency, people can speak with a geneticist or a genetic counselor. A genetic counselor can be found through the National Society of Genetic Counselors and using the Find A Genetic Counselor search.

Different samples are used for different tests in 3-Methylcrotonyl-CoA Carboxylase (3-MCC) deficiency. Typically a biopsy is not necessary. Genetic testing can usually be performed on either saliva or blood, depending on the specific laboratory performing the testing. Speak to your geneticist or genetic counselor about the different types of tests and the different types of samples needed.

Symptoms of 3-Methylcrotonyl-CoA Carboxylase (3-MCC) deficiency are most likely to occur when a person is sick or not eating well. Some patients with 3-Methylcrotonyl-CoA Carboxylase deficiency may be put on a low-protein diet that is low in the amino acid leucine. Even with a low-protein diet, some individuals with 3-MCC deficiency will have symptoms when they are sick and not eating well. Other metabolic centers do not use a low-protein diet. Some centers may recommend that people with 3-MCC deficiency take vitamins and supplements, such as carnitine and biotin. If you have questions about the treatment of 3-MCC deficiency, speak with your biochemical geneticist to determine what their practice is.

3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC) is an autosomal recessive disorder. This means that a person needs two genetic changes (mutations) in order to be affected. Most people have two copies of every gene, one that comes from dad and one that comes from dad. People can be carriers of 3-MCC, meaning that they one of their genes has a change (mutation) but the other does not. These carriers are not affected by 3-MCC, however, they can pass on their changed gene to their children. If two carriers have child they have a 25% chance of each passing on their changed gene and having a child with 3-MCC.

Not everyone with 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC) will need treatment. Your child’s doctor and dietician will know best whether or not your child can take a break from their diet. Your child’s doctor may advise following a strict low-protein diet at all times so that your child can avoid entering a metabolic crisis – which, if untreated, can cause developmental delay, seizures, coma, and possibly death.

There are several other names for 3-Methylcrotonyl-CoA Carboxylase Deficiency, such as:

The Organic Acidemia Association (a ThinkGenetic Advocacy Partner) is the main support group for people who have 3-Methylcrotonyl-CoA Carboxylase (3-MCC) deficiency.

3-Methylcrotonyl-CoA Carboxylase (3-MCC) deficiency is only caused by mutations in the MCCC1 and MCCC2 genes. There are no non-genetic causes for 3-MCC deficiency known at this time.
In order to learn more about the genetics of in 3-MCC deficiency, people can speak with a geneticist or a genetic counselor. A genetic counselor can be found through the National Society of Genetic Counselors and using the Find A Genetic Counselor search.

There are not different forms of 3-Methylcrotonyl-CoA Carboxylase (3-MCC) deficiency, however the disorder is very variable. The best person to figure out whether an individual has 3-MCC deficiency is a doctor who specializes in metabolic disorders, such as a biochemical geneticist. Biochemical geneticists can be found in an area by using the "Find Genetic Service" function at the American College of Medical Genetics website at Find Genetic Service.

Genetic mutations within either MCCC1 or MCCC2 gene are causative of 3-Methylcrotonyl-CoA Carboxylase (3-MCC) deficiency. There is a wide range in the severity of 3-MCC deficiency, though, and some people will have more severe symptoms at an early age, and some adults are entirely asymptomatic.
The best person to figure out whether an individual has 3-MCC deficiency is a doctor who specializes in metabolic disorders, such as a biochemical geneticist. Biochemical geneticists can be found in an area by using the "Find Genetic Service" function at the American College of Medical Genetics website at Find Genetic Service.

3-Methylcrotonyl-CoA Carboxylase (3-MCC) deficiency is part of a group of metabolic disorders called "organic acidemias". There is some overlap between 3-MCC deficiency and the other disorders in the category. Biochemical testing of blood and urine can tell the difference between the different disorders. In the past, some people who had Reye syndrome were found to have 3-MCC deficiency.
The best person to figure out whether an individual has 3-MCC deficiency is a doctor who specializes in metabolic disorders, such as a biochemical geneticist. Biochemical geneticists can be found in an area by using the "Find Genetic Service" function at the American College of Medical Genetics website at Find Genetic Service.

If two people have a child with 3-Methylcrotonyl-CoA Carbroxylase (3-MCC) deficiency, it is assumed that each parent is a "carrier" for 3-MCC deficiency. Because 3-MCC deficiency is inherited in an autosomal recessive, in each pregnancy that two carriers have together, there is a 25% chance (1 in 4), that the child would have 3-MCC deficiency, 50% chance (1 in 2) that the child would be carrier for 3-MCC deficiency, and a 25% chance (1 in 4) that the child would neither be a carrier nor have 3-MCC deficiency.
In order to learn more about the chances in each pregnancy of having a child with 3-MCC deficiency, people can speak with a geneticist or a genetic counselor. A genetic counselor can be found through the National Society of Genetic Counselors and using the Find A Genetic Counselor search.