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Case Reports
. 2002 Nov;87(5):428-9; discussion 428-9.
doi: 10.1136/adc.87.5.428.

Fat oxidation defect presenting with overwhelming ketonuria

E Wraige  1 , M P Champion, C Turner, R N Dalton
Affiliations
Case Reports

Fat oxidation defect presenting with overwhelming ketonuria

E Wraige et al. Arch Dis Child. 2002 Nov.

Abstract

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.

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