Organic acids in aqueous humour and plasma: post mortem study in infants and diagnosis of enzymopathies.
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.
Coude
M M
MM
Laboratoire de Biochimie Médicale B, Hôpital Necker Enfants Malades, Paris, France.
Charpentier
C
C
Bonnefont
J P
JP
Cheron
G
G
Kamoun
P
P
D000272:Adipates / Q000652:urine; D001082:Aqueous Humor / Q000737:chemistry*; D002264:Carboxylic Acids / Q000032:analysis* / Q000097:blood; D005227:Fatty Acids / Q000378:metabolism; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D008764:Methylmalonic Acid / Q000652:urine; D011422:Propionates / Q000378:metabolism; D012189:Retrospective Studies
D000272:Adipates; D002264:Carboxylic Acids; D005227:Fatty Acids; D011422:Propionates; C029900:adipic acid; D008764:Methylmalonic Acid; C029658:propionic acid