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Disease or Condition — Hormonal, Nutritional, Metabolic, and Immune Disorders:
3-Hydroxy-3-methylglutaric aciduria

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Description

3-hydroxy-3-methylglutaryl-CoA lyase deficiency is an inherited disorder that affects the body's ability to break down certain proteins and fats. It is caused by a mutation in the gene that codes for the enzyme 3-hydroxy-3-methylglutaryl-CoA lyase. This enzyme is responsible for the breakdown of proteins and fats into smaller molecules that can be used by the body for energy. Without this enzyme, the body is unable to properly break down proteins and fats, leading to a buildup of these molecules in the body. Symptoms of this disorder can include poor growth, intellectual disability, seizures, and liver and kidney problems. Treatment typically involves dietary changes and supplementation with certain vitamins and minerals.

Synonyms
  • 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
  • HL deficiency
  • HMG-CoA lyase deficiency
  • HMGCL deficiency
  • hydroxymethylglutaric aciduria
Basic Lab Tests (measurements)

Detailed Disease and Condition Information (use the search buttons below to find details on these topics)
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