3-methylcrotonyl-CoA carboxylase deficiency is an inherited disorder in which the body is unable to process certain proteins properly. People with this disorder have inadequate levels of an enzyme that helps break down proteins containing a particular building block (amino acid) called leucine.

Infants with this disorder appear normal at birth but usually develop signs and symptoms during the first year of life or in early childhood. The characteristic features of this condition, which can range from mild to life-threatening, include feeding difficulties, recurrent episodes of vomiting and diarrhea, excessive tiredness (lethargy), and weak muscle tone (hypotonia). If untreated, this disorder can lead to delayed development, seizures, and coma. Early detection and lifelong management (following a low-protein diet and using appropriate supplements) may prevent many of these complications. In some cases, people with gene mutations that cause 3-methylcrotonyl-CoA carboxylase deficiency never experience any signs or symptoms of the disorder.

The characteristic features of this condition are similar to those of Reye syndrome, a severe disorder that develops in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections. more >>

• Parent Fact Sheet on 3-MCC by STAR-G/HRSA
• OMIM - 3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY
• PROTOCOLO CHOP 3MCC (Protocol letter from CHOP) (Spanish)
• DEFICIENCIA DE 3 METIL CROTONIL CoA Carboxilasa (3MCC Deficiency) (Spanish)

Meet our Children with 3-MCC

Kristie & Johnny Sabalauskas	Adrian Lopez	Cutter Franks