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

Causes

What gene change causes 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC)?

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.

References
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What happens when there are mutations in the MCCC1 and MCCC2 genes?

Does anything make 3-Methylcrotonyl-CoA Carboxylase Deficiency worse?

Are mutations in MCCC1 and MCCC2 a predisposition or a cause for 3-Methylcrotonyl-CoA Carboxylase Deficiency?

What happens when there are mutations in the MCCC1 and MCCC2 genes?

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.

References
Does anything make 3-Methylcrotonyl-CoA Carboxylase Deficiency worse?

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.

References
Are mutations in MCCC1 and MCCC2 a predisposition or a cause for 3-Methylcrotonyl-CoA Carboxylase Deficiency?

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.

References

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