H01076 | |
H number | H01076 |
Name | Beta-ketothiolase deficiency; Alpha-methylacetoacetic aciduria |
Description | Beta-ketothiolase deficiency/Alpha-methylacetoacetic aciduria is an autosomal recessive error of isoleucine and ketone body catabolism caused by a deficiency of mitochondrial acetoacetyl-CoA thiolase. The patients present with intermittent ketoacidotic episodes and urinary excretion of 2-methylacetoacetate, 2-methyl-3-hydroxybutyrate, and tiglylglycine. |
Category | Inherited metabolic disorder |
Network | - |
Gene | ACAT1 [HSA:38] [KO:K00626] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 5C50.DY ICD-10: E72.2 MeSH: C535434 OMIM: 203750 |
Reference | PMID:1346617 AUTHORS Fukao T, Yamaguchi S, Orii T, Schutgens RB, Osumi T, Hashimoto T TITLE Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-coenzyme A thiolase. A complete analysis of two generations of a family with 3-ketothiolase deficiency. JOURNAL J Clin Invest 89:474-9 (1992) DOI:10.1172/JCI115608 PMID:1715688 AUTHORS Fukao T, Yamaguchi S, Tomatsu S, Orii T, Frauendienst-Egger G, Schrod L, Osumi T, Hashimoto T TITLE Evidence for a structural mutation (347Ala to Thr) in a German family with 3-ketothiolase deficiency. JOURNAL Biochem Biophys Res Commun 179:124-9 (1991) DOI:10.1016/0006-291X(91)91343-B PMID:7728148 AUTHORS Wakazono A, Fukao T, Yamaguchi S, Hori T, Orii T, Lambert M, Mitchell GA, Lee GW, Hashimoto T TITLE Molecular, biochemical, and clinical characterization of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in two further patients. JOURNAL Hum Mutat 5:34-42 (1995) DOI:10.1002/humu.1380050105 |