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.
MeSH terms
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Acyl-CoA Dehydrogenase, Long-Chain / deficiency*
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Brain Diseases, Metabolic / complications
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Carnitine / analogs & derivatives*
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Carnitine / metabolism
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Female
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Humans
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Hypoglycemia / complications
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Infant
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Ketone Bodies / urine*
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Oxidation-Reduction
Substances
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Ketone Bodies
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acylcarnitine
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Acyl-CoA Dehydrogenase, Long-Chain
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Carnitine