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Organic acids in aqueous humour and plasma: Post mortem study in infants and diagnosis of enzymopathies
Author(s) -
Coude M. M.,
Charpentier C.,
Bonnefont J. P.,
Cheron G.,
Kamoun P.
Publication year - 1991
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01799931
Subject(s) - methylmalonic acidemia , excretion , urine , catabolism , chemistry , metabolite , metabolic disorder , methylmalonic acid , hyperglycinemia , metabolic acidosis , aqueous solution , aqueous humour , metabolic disease , medicine , biochemistry , amino acid , endocrinology , metabolism , organic chemistry , surgery , vitamin b12 , glycine , intraocular pressure
Summary 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.