Organic acids in aqueous humour and plasma: Post mortem study in infants and diagnosis of enzymopathies
- 17 July 1990
- journal article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 14 (5) , 668-673
- https://doi.org/10.1007/bf01799931
Abstract
Organic acids have been determined in aqueous humour and plasma by gas chromatography-mass spectrometry in 38 cases of infant death and 4 cases of inherited metabolic disease: one had a complex fatty-acid oxidation disorder with a large urinary excretion of adipic acid, the others had a disorder of propionate catabolism with a large urinary excretion of methylmalonic acid. In each case we found in aqueous humour the abnormal metabolite present in urine. Thus aqueous humour could be a suitable material for retrospective diagnosis of inherited metabolic diseases at autopsy in sudden infant death syndrome.Keywords
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