ORGANIC-ACIDS IN AQUEOUS-HUMOR AND PLASMA - POST-MORTEM STUDY IN INFANTS AND DIAGNOSIS OF ENZYMOPATHIES

被引：2

作者：

COUDE, MM

CHARPENTIER, C

BONNEFONT, JP

CHERON, G

KAMOUN, P

机构：

[1] HOP NECKER ENFANTS MALAD,BIOCHIM MED LAB B,F-75743 PARIS 15,FRANCE

[2] HOP NECKER ENFANTS MALAD,GENET MED CLIN,F-75743 PARIS 15,FRANCE

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1991年 / 14卷 / 05期

关键词：

D O I：

10.1007/BF01799931

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：668 / 673

页数：6

共 11 条

[1] LETHAL MULTIPLE ACYL-COA DEHYDROGENATION DEFICIENCY WITH DYSMORPHIC FEATURES [J].