
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.
Brain Diseases, Metabolic, Carnitine, Acyl-CoA Dehydrogenase, Long-Chain, Humans, Infant, Female, Ketone Bodies, Oxidation-Reduction, Hypoglycemia
Brain Diseases, Metabolic, Carnitine, Acyl-CoA Dehydrogenase, Long-Chain, Humans, Infant, Female, Ketone Bodies, Oxidation-Reduction, Hypoglycemia
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