Fat oxidation defect presenting with overwhelming ketonuria.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 12390922.
- Also identified by PMC identifier 1763082.
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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.
Medical subject headings
- Acyl-CoA Dehydrogenase, Long-Chain
- Carnitine
- Ketone Bodies