HMG-CoA Lyase Deficiency

**Semantic type:** Disease or Syndrome

**Definition:** A rare genetic inherited disorder characterized by inability of the body to process the amino acid leucine. Signs and symptoms include vomiting, dehydration, lethargy, convulsions, and coma.

**Synonyms:** - 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency - 3-OH 3-Methyl Glutaric Aciduria - Deficiency of Hydroxymethylglutaryl-CoA Lyase - Hydroxymethylglutaric Aciduria - Hydroxymethylglutaryl-CoA Lyase Deficiency - Hydroxymethylglutaryl-CoA Lyase Deficiency