Summary

46 3-methylcrotonyl-coa carboxylase deficiency (3-mcc deficiency) is an inherited condition in which the body is unable to breakdown the amino acid, leucine (a building block of protein). some children with 3-mcc deficiency will begin developing signs and symptoms during infancy or early childhood; however, more recent studies suggest that many affected babies identified through newborn screening will never experience symptoms of the condition. 3-mcc deficiency may be associated with episodes of "metabolic crisis" in which affected people experience poor appetite, lack of energy, irritability, weakness, nausea and/or vomiting. if metabolic crises are untreated, the condition can lead to developmental delay, seizures, coma, and even death. 3-mcc deficiency is caused by changes (mutations) in mccc1 or mccc2 gene and is inherited in an autosomal recessive manner. treatment may include a low-leucine diet and appropriate supplements

All SNPs

Disease Hierarchy

Disease Interacts with Genes

Disease Interacts with Substances

Processes Associated With Trait

Pathways Associated With Trait

Symptoms Associated With Trait