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Organic acids in aqueous humour and plasma: post mortem study in infants and diagnosis of enzymopathies.

Journal of inherited metabolic disease (1991-01-01)
M M Coude, C Charpentier, J P Bonnefont, G Cheron, P Kamoun
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.

MATERIALS
Product Number
Brand
Product Description

Supelco
Adipic acid, certified reference material, TraceCERT®
Sigma-Aldrich
Adipic acid, ≥99.5%
Sigma-Aldrich
Methylmalonic acid, 99%
Sigma-Aldrich
Adipic acid, 99%
Sigma-Aldrich
Adipic acid, BioXtra, ≥99.5% (HPLC)
Supelco
Methylmalonic acid solution, 1.0 mg/mL in acetonitrile, ampule of 1 mL, certified reference material, Cerilliant®