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Beta ketothiolase deficiency MeSH Supplementary Concept Data 2022


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 Preferred
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