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Disease or Condition — Hormonal, Nutritional, Metabolic, and Immune Disorders:
3-MCC deficiency

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3-methylcrotonyl-CoA carboxylase deficiency is an inherited disorder that affects the body's ability to break down certain proteins. It is caused by a deficiency in the enzyme 3-methylcrotonyl-CoA carboxylase, which is responsible for the breakdown of the amino acid leucine. People with this disorder have an accumulation of 3-methylcrotonyl-CoA in their bodies, which can lead to a variety of symptoms, including intellectual disability, seizures, and movement disorders. Treatment typically involves dietary changes and supplementation with carnitine, which helps to break down the 3-methylcrotonyl-CoA.

  • 3-methylcrotonyl-CoA carboxylase deficiency
  • MCC deficiency
Basic Lab Tests (measurements)

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