Organic acids in aqueous humour and plasma: post mortem study in infants and diagnosis of enzymopathies.
J Inherit Metab Dis
; 14(5): 668-73, 1991.
Article
em En
| MEDLINE
| ID: mdl-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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Base de dados:
MEDLINE
Assunto principal:
Humor Aquoso
/
Ácidos Carboxílicos
/
Erros Inatos do Metabolismo
Tipo de estudo:
Diagnostic_studies
/
Observational_studies
Limite:
Humans
/
Infant
/
Newborn
Idioma:
En
Ano de publicação:
1991
Tipo de documento:
Article