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  • Title: Organic acids in aqueous humour and plasma: post mortem study in infants and diagnosis of enzymopathies.
    Author: Coude MM, Charpentier C, Bonnefont JP, Cheron G, Kamoun P.
    Journal: J Inherit Metab Dis; 1991; 14(5):668-73. PubMed ID: 1779612.
    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.
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