Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a severe fatty acid oxidation disorder.
3-Hydroxyacyl-CoA dehydrogenase deficiency is a newly recognised fatty acid oxidation disorder with a usually fatal outcome. We present a further patient who presented with hypoketotic hypoglycaemia, hepatopathy, secondary carnitine deficiency and increased plasma long-chain acylcarnitines. 3-Hydroxydicarboxylic aciduria was present and the diagnosis confirmed in cultured skin fibroblasts. Our patient is compared with those reported in the literature with respect to clinical symptoms, differential diagnosis and possible therapeutic regimens.
Sewell
A C
AC
Department of Paediatrics, University Children's Hospital Frankfurt, Germany.
Bender
S W
SW
Wirth
S
S
Münterfering
H
H
Ijlist
L
L
Wanders
R J
RJ
D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency*; D009202:Cardiomyopathies / Q000201:enzymology* / Q000209:etiology; D002331:Carnitine / Q000172:deficiency; D004796:Clinical Enzyme Tests / Q000379:methods; D017809:Fatal Outcome; D006801:Humans; D007003:Hypoglycemia / Q000209:etiology; D007231:Infant, Newborn; D008052:Lipid Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis / Q000503:physiopathology; D008107:Liver Diseases / Q000201:enzymology; D008297:Male; D017240:Mitochondrial Myopathies / Q000175:diagnosis / Q000503:physiopathology
D015094:3-Hydroxyacyl CoA Dehydrogenases; D002331:Carnitine