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.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/3-methylcrotonyl-coa-carboxylase-1-deficiency/overview/17080 • DATE UPDATED: 2016-07-08

References

3-methylcrotonyl-CoA carboxylase deficiency. Genetics Home reference. https://ghr.nlm.nih.gov/condition/3-methylcrotonyl-coa-carboxylase-deficiency

Grunert, SC et al. 3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals. Orphanet Journal of Rare Diseases. 7:31. 2012. DOI: 10.1186/1750-1172-7-31

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