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Description

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.

Synonyms

• 3-methylcrotonyl-CoA carboxylase deficiency
• MCC deficiency

Basic Lab Tests (measurements)

• urine
  •      3-methylcrotonylglycine
  •      3-hydroxyisovalerate

Detailed Disease and Condition Information (use the search buttons below to find details on these topics)
All of the following must be considered when interpreting clinical findings and are too extensive to be covered on this site: