Chemical diagnosis of inherited defects of fatty acid metabolism and ketogenesis.
Urinary organic acid profiles in patients with inherited defects of fatty acid metabolism and ketogenesis are described. Medium-chain acyl-CoA dehydrogenase, short-chain acyl-CoA dehydrogenase, multiple acyl-CoA dehydrogenase, and 3-hydroxy-3-methyl-glutaryl-CoA lyase deficiencies can be recognized at the metabolite level. Data on long-chain acyl-CoA dehydrogenase and systemic carnitine deficiencies are scarce. In the latter disorders, dicarboxylic aciduria is rather nonspecific and points to a modest omega-oxidation of long chain fatty acids.
Duran
M
M
University Children's Hospital Het Wilhelmina Kinderziekenhuis, Utrecht, The Netherlands.
Wadman
S K
SK
D000214:Acyl Coenzyme A / Q000172:deficiency*; D044942:Acyl-CoA Dehydrogenase, Long-Chain / Q000172:deficiency*; D000217:Acyltransferases / Q000172:deficiency*; D000818:Animals; D002264:Carboxylic Acids / Q000652:urine*; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency*; D006801:Humans
D000214:Acyl Coenzyme A; D002264:Carboxylic Acids; C008047:3-hydroxy-3-methylglutaryl-coenzyme A; D044942:Acyl-CoA Dehydrogenase, Long-Chain; D000217:Acyltransferases; D002334:Carnitine O-Palmitoyltransferase