beta-ketothiolase deficiency

An amino acid metabolic disorder characterized by inability to process isoleucine and ketones, with symptoms of recurrent ketoacidotic attacks in infancy marked by vomiting, lethargy, dehydration, and seizures, and has_material_basis_in mutation in the ACAT1 g

An amino acid metabolic disorder characterized by inability to process isoleucine and ketones, with symptoms of recurrent ketoacidotic attacks in infancy marked by vomiting, lethargy, dehydration, and seizures, and has_material_basis_in mutation in the ACAT1 gene of chromosome 11q22.3 responsible for producing the ACAT1 enzyme in mitochondria, which processes isoleucine and ketones.

Signs and symptoms

• Elevated urinary 2-methyl-3-hydroxybutyric acid level
• Episodic ketoacidosis
• Reduced mitochondrial acetyl-CoA acetyltransferase activity in cultured fibroblasts
• Vomiting
• Dehydration
• Intellectual disability

Also known as: 2-methyl-3-hydroxybutyricacidemia; 3-ketothiolase deficiency; 3-oxothiolase deficiency; Mitochondrial acetoacetyl-CoA Thiolase deficiency; alpha-methylacetoaceticaciduria