3 alpha methylcrotonyl-coa carboxylase 2 deficiency: A rare inherited disorder where lack of a certain enzyme (3-methylcrotonyl-Coa carboxylase) stops proteins with the amino acid leucine being metabolized normally by the body. The leucine builds up in the body and causes damage to the brain and nervous system. The severity of the condition is variable with some cases being mild enough to be asymptomatic. The condition differs from type 1 in that it originates as a defect in a different gene (MCC2 gene) but it causes the same enzyme deficiency. More detailed information about the symptoms, causes, and treatments of 3 alpha methylcrotonyl-coa carboxylase 2 deficiency is available below.
See full list of 6 symptoms of 3 alpha methylcrotonyl-coa carboxylase 2 deficiency
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3 alpha methylcrotonyl-coa carboxylase 2 deficiency is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that 3 alpha methylcrotonyl-coa carboxylase 2 deficiency, or a subtype of 3 alpha methylcrotonyl-coa carboxylase 2 deficiency,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
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