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

Overview

What is 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC) disease?

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.

References
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Are there other names for 3-Methylcrotonyl-CoA Carboxylase Deficiency?

How common is 3-Methylcrotonyl-CoA Carboxylase deficiency?

Are there other names for 3-Methylcrotonyl-CoA Carboxylase Deficiency?

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

  • 3-MCC
  • 3-MCC deficiency
  • 3-methylcrotonyl-coenzyme A carboxylase deficiency
  • 3-methylcrotonylglycinuria
  • 3MCC
  • BMCC deficiency
  • Deficiency of methylcrotonoyl-CoA carboxylase
  • MCC deficiency
  • Methylcrotonyl-CoA carboxylase deficiency
  • MCCD type 1

Because abbreviations can be confusing, always look at the beginning of an article, website or other document for an explanation of what abbreviations are. If you have questions, always ask your doctor or genetic counselor to explain the abbreviations that are being used.

References
How common is 3-Methylcrotonyl-CoA Carboxylase deficiency?

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.

References

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