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Alpha-methylacetoacetic aciduria

Disease ID:54
Name:Alpha-methylacetoacetic aciduria
Associated with:1 target
Beta-ketothiolase deficiency
Database Links
Disease Ontology: DOID:14723
OMIM: 203750
Orphanet: ORPHA134


acetyl-CoA acetyltransferase 1
References:  1-4


No ligand related data available for Alpha-methylacetoacetic aciduria


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1. Fukao T, Nakamura H, Song XQ, Nakamura K, Orii KE, Kohno Y, Kano M, Yamaguchi S, Hashimoto T, Orii T et al.. (1998) Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency. Hum Mutat, 12 (4): 245-54. [PMID:9744475]

2. Fukao T, Yamaguchi S, Orii T, Schutgens RB, Osumi T, Hashimoto T. (1992) 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. J Clin Invest, 89 (2): 474-9. [PMID:1346617]

3. Fukao T, Yamaguchi S, Tomatsu S, Orii T, Frauendienst-Egger G, Schrod L, Osumi T, Hashimoto T. (1991) Evidence for a structural mutation (347Ala to Thr) in a German family with 3-ketothiolase deficiency. Biochem Biophys Res Commun, 179 (1): 124-9. [PMID:1715688]

4. Wakazono A, Fukao T, Yamaguchi S, Hori T, Orii T, Lambert M, Mitchell GA, Lee GW, Hashimoto T. (1995) Molecular, biochemical, and clinical characterization of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in two further patients. Hum Mutat, 5 (1): 34-42. [PMID:7728148]