MeSH Browser

MeSH Supplementary: Beta ketothiolase deficiency
Unique ID: C535434
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C535434
Entry Term(s): 2-Alpha-Methyl-3-Hydroxybutyricacidemia; 2-Methyl-3-Hydroxybutyric Acidemia; 2-methyl-3-hydroxybutyricacidemia; 3-Alpha-Ketothiolase Deficiency; 3-Alpha-Ktd Deficiency; 3-Alpha-Oxothiolase Deficiency; 3-Methylhydroxybutyric Acidemia; 3-ketothiolase deficiency; 3-oxothiolase deficiency; Alpha-Methylacetoacetic Aciduria; Alpha-methylacetoaceticaciduria; B-Ketothiolase Deficiency; Beta-Ketothiolase Deficiency; Mitochondrial 2-Methylacetoacetyl-Coa Thiolase Deficiency - Potassium Stimulated; Mitochondrial Acetoacetyl-CoA Thiolase deficiency; T2 Deficiency
Registry Number: 0
Heading Mapped to: Acetyl-CoA C-Acyltransferase / *deficiency; *Amino Acid Metabolism, Inborn Errors
Frequency: 32
Note: 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 of Entry: 2010/08/25
Revision Date: 2015/09/25

Beta ketothiolase deficiency MeSH Supplementary Concept Data 2024