Beta-ketothiolase deficiency

Definition:

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.

References:

[1]. A Wakazono, et al. Molecular, biochemical, and clinical characterization of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in two further patients. Hum Mutat. 1995;5(1):34-42. [Content Brief]

[2]. T Fukao, et al. Evidence for a structural mutation (347Ala to Thr) in a German family with 3-ketothiolase deficiency. Biochem Biophys Res Commun. 1991 Aug 30;179(1):124-9. [Content Brief]

[3]. T Fukao, et al. 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. 1992 Feb;89(2):474-9. [Content Brief]

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