| Literature DB >> 12390922 |
E Wraige1, M P Champion, C Turner, R N Dalton.
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.Entities:
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Year: 2002 PMID： 12390922 PMCID： PMC1763082 DOI： 10.1136/adc.87.5.428
Source DB: PubMed Journal: Arch Dis Child ISSN： 0003-9888 Impact factor: 3.791