Molecular Genetics
3-methylcrotonyl-CoA Carboxylase Deficiency Panel
Background:
3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency is a metabolic disorder involved in the disruption of leucine catabolism. Leucine is used as an energy source when glucose levels are low; defects in either 3-MCC genes (MCCC1 and MCCC2) may not efficiency degrade leucine. This results in potentially dangerous levels of intermediate metabolites of leucine catabolism pathway, specifically 3-hydroxylisovaleric acid or 3-methylcrotonylglycine. The clinical phenotype of this disorder may include feeding difficulties, weakness and poor muscle tone. This condition is inherited in an autosomal recessive manner. This next-generation sequencing test assess the coding region for the two genes associated with 3-MCC deficiency.
Reasons for Referral:
- Confirmation of a biochemical diagnosis
- Carrier testing
For detailed information and ordering instructions, please refer to Full Gene Analysis (1240). Genes may be added or removed from the list below if clinically indicated.
3-methylcrotonyl-CoA carboxylase Deficiency Panel (2 genes):
MCCC1, MCCC2
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