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Glossary for 3 alpha methylcrotonyl-Coa carboxylase 1 deficiency

  • $3-methylcrotonyl-CoA carboxylase deficiency$: 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.
  • Coma: Prolonged unconsciousness
  • Lethargy: feeling of tiredness
  • Muscle weakness: A condition which is characterized by an inability of the muscles to function at their full strenght
  • No symptoms: The absence of noticable symptoms.
  • Poor feeding: Poor feeding (mostly in infants)


 » Next page: Hyperhomocysteinemia

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