Mitochondrial acetoacetyl-CoA thiolase deficiency.
A patient with severe progressive neuropathy and growth retardation who showed a persistent ketosis despite normal blood glucose levels is described. A liver biopsy was analyzed for 3-oxoacyl-CoA thiolase activity. One of the mitochondrial 3-oxoacyl-CoA thiolases which in normal control liver could be activated by K+ was virtually absent in the patient's liver. An intensive search for 3-methylhydroxybutyric acid and 3-methylacetoacetic acid by gas chromatography/mass spectroscopy in the patient's urine failed to show the presence of these acids, demonstrating that the 3-methylacetoacetyl-CoA thiolase is functioning in this patient. It is therefore concluded that the persistent ketosis is due to a deficiency of the mitochondrial acetoacetyl-CoA specific thiolase.
D000102:Acetyl-CoA C-Acyltransferase / Q000172:deficiency*; D000140:Acidosis, Lactic / Q000201:enzymology; D000217:Acyltransferases / Q000172:deficiency*; D002264:Carboxylic Acids / Q000652:urine; D002675:Child, Preschool; D002849:Chromatography, Gas; D005260:Female; D006130:Growth Disorders / Q000201:enzymology; D006801:Humans; D007657:Ketone Bodies / Q000097:blood; D007662:Ketosis / Q000201:enzymology; D007773:Lactates / Q000097:blood; D019344:Lactic Acid; D008930:Mitochondria, Liver / Q000201:enzymology*
D002264:Carboxylic Acids; D007657:Ketone Bodies; D007773:Lactates; D019344:Lactic Acid; D000217:Acyltransferases; D000102:Acetyl-CoA C-Acyltransferase