Fat oxidation defect presenting with overwhelming ketonuria.

E Wraige; M P Champion; C Turner; R N Dalton

doi:10.1136/adc.87.5.428

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Fat oxidation defect presenting with overwhelming ketonuria.

E Wraige·M P Champion·C Turner·R N Dalton

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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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Acyl-CoA Dehydrogenase, Long-Chain Brain Diseases, Metabolic Carnitine Female Humans Hypoglycemia Infant Ketone Bodies Oxidation-Reduction Case Reports Journal Article

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E Wraige, M P Champion, C Turner, R N Dalton. 2002. Fat oxidation defect presenting with overwhelming ketonuria.. https://doi.org/10.1136/adc.87.5.428

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