Alpha-Methylacetoacetic Aciduria

**Semantic type:** Disease or Syndrome

**Definition:** A rare autosomal recessive inherited disorder caused by mutations in the ACAT1 gene. It is characterized by the reduction or elimination of the enzyme mitochondrial acetoacetyl-CoA thiolase which is responsible for the metabolism of the amino acid isoleucine and ketone-body metabolism. Signs and symptoms appear early in life and include vomiting, dehydration, breathing difficulties, seizures, lethargy, and coma.

**Synonyms:** - 3-Ketothiolase Deficiency - BKT - Beta-Ketothiolase Deficiency - Beta-Ketothiolase Deficiency