Fat oxidation defect presenting with overwhelming ketonuria.
Ketonuria accompanying hypoglycaemia is conventionally thought to exclude fat oxidation defects. We describe a 2 year old girl with hypoglycaemic encephalopathy in whom a diagnosis of very long chain acyl CoA dehydrogenase deficiency was suggested on the basis of acylcarnitine analysis despite massive ketonuria.
Wraige
E
E
Department of Paediatric Metabolic Medicine, Guy's Hospital, London, UK.
Champion
M P
MP
Turner
C
C
Dalton
R N
RN
D044942:Acyl-CoA Dehydrogenase, Long-Chain / Q000172:deficiency*; D001928:Brain Diseases, Metabolic / Q000150:complications; D002331:Carnitine / Q000031:analogs & derivatives* / Q000378:metabolism; D005260:Female; D006801:Humans; D007003:Hypoglycemia / Q000150:complications; D007223:Infant; D007657:Ketone Bodies / Q000652:urine*; D010084:Oxidation-Reduction
D007657:Ketone Bodies; C116917:acylcarnitine; D044942:Acyl-CoA Dehydrogenase, Long-Chain; D002331:Carnitine