Beta ketothiolase deficiency [Supplementary Concept]

An autosomal recessive inborn error of ISOLEUCINE catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and 2-butanone. Some patients may experience KETOSIS during infections and some may have INTELLECTUAL DISABILITY. Mutations in the ACAT1 gene have been identified. OMIM: 203750

Date introduced: August 25, 2010

MeSH Unique ID: C535434

Heading Mapped to:

• Acetyl-CoA C-Acyltransferase/deficiency
• Amino Acid Metabolism, Inborn Errors

Entry Terms:

• Alpha-methylacetoaceticaciduria
• 2-methyl-3-hydroxybutyricacidemia
• Mitochondrial Acetoacetyl-CoA Thiolase deficiency
• 3-oxothiolase deficiency
• 3-ketothiolase deficiency
• Beta-Ketothiolase Deficiency
• Alpha-Methylacetoacetic Aciduria
• 2-Methyl-3-Hydroxybutyric Acidemia
• 2-Alpha-Methyl-3-Hydroxybutyricacidemia
• 3-Alpha-Ketothiolase Deficiency
• 3-Alpha-Ktd Deficiency
• 3-Alpha-Oxothiolase Deficiency
• 3-Methylhydroxybutyric Acidemia
• Mitochondrial 2-Methylacetoacetyl-Coa Thiolase Deficiency - Potassium Stimulated
• T2 Deficiency
• B-Ketothiolase Deficiency