3-hydroxy-3-methylglutaryl-CoA lyase deficiency

An amino acid metabolic disorder characterized by metabolic acidosis without ketonuria, hypoglycemia, and a characteristic pattern of elevated urinary organic acid metabolites, including 3-hydroxy-3-methylglutaric, 3-methylglutaric, and 3-hydroxyisovaleric aci

An amino acid metabolic disorder characterized by metabolic acidosis without ketonuria, hypoglycemia, and a characteristic pattern of elevated urinary organic acid metabolites, including 3-hydroxy-3-methylglutaric, 3-methylglutaric, and 3-hydroxyisovaleric acids that has_material_basis_in homozygous or compound heterozygous mutation in the HMGCL gene on chromosome 1p36.11.

Signs and symptoms

• Reduced HMG-CoA lyase activity in cultured fibroblasts
• Metabolic acidosis
• Hyperammonemia
• Elevated serum anion gap
• Hypoglycemia
• Elevated circulating alanine aminotransferase concentration
• Elevated circulating aspartate aminotransferase concentration
• Increased circulating lactate concentration
• Decreased circulating carnitine concentration
• Organic aciduria

Also known as: 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency; HMG-CoA lyase deficiency; HMGCL deficiency; HMGCLD; hydroxymethylglutaric aciduria