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

3-methylcrotonyl-CoA carboxylase deficiency is an inherited disorder in which the body is unable to process certain proteins properly.

Signs and Symptoms
Affected infants often appear normal at birth but develop signs and symptoms in infancy or early childhood. Symptoms include vomiting and diarrhea, lethargy, weak muscle tone, delayed development, seizures and coma. Many problems can be prevented with early detection. This disorder may also be caused my mutations in the MCCC2 gene.


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