Simplifying Science Descipher Logo   
Menu
S T E M
Disease or Condition — Hormonal, Nutritional, Metabolic, and Immune Disorders:
3-methylglutaconic aciduria

Information displayed below is a subset of the entire knowledge base and may be incorrect, or incomplete intensionally or inadvertently. If you detect a serious error or want access to the complete knowledge base, please contact us.

Description

3-Methylglutaconic aciduria is an inherited disorder caused by a deficiency in the enzyme 3-methylglutaconyl-CoA hydratase. This enzyme is responsible for breaking down certain fatty acids and amino acids in the body. When this enzyme is deficient, the body is unable to properly break down these substances, leading to the buildup of 3-methylglutaconic acid in the body. Symptoms of this disorder can include developmental delays, seizures, and muscle weakness. Treatment typically involves dietary modifications and supplementation with certain vitamins and minerals.

Synonyms
  • MGCA
Basic Lab Tests (measurements)

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:

S