NEONATAL ONSET OF MEDIUM-CHAIN ACYL-COENZYME-A DEHYDROGENASE-DEFICIENCY WITH CONFUSING BIOCHEMICAL FEATURES

被引：12

作者：

CHRISTODOULOU, J ^{[1
]}

HOARE, J ^{[1
]}

HAMMOND, J ^{[1
]}

IP, WC ^{[1
]}

WILCKEN, B ^{[1
]}

机构：

[1] UNIV SYDNEY, DEPT PAEDIAT & CHILD HLTH, SYDNEY, NSW 2006, AUSTRALIA

来源：

JOURNAL OF PEDIATRICS | 1995年 / 126卷 / 01期

关键词：

D O I：

10.1016/S0022-3476(95)70504-X

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

A female neonate was seen because of shock, ketosis, and undetectable blood glucose, Initial urinary findings indicated the possibility of a defect of fatty acid beta-oxidation; subsequent studies showed thai she had medium-chain acylcoenzyme A dehydrogenase deficiency, This case highlights the fact that the initial symptoms may occur in the first few days of life, and that the presence of ketosis does not exclude the possibility of a fatty acid oxidation defect; the profiles of urinary organic acids and acylglycines may not be characteristic at that time.

引用

页码：65 / 68

页数：4

共 15 条

[1]

BENNETT MJ, 1992, CLIN CHEM, V38, P278

[2] EARLY DIAGNOSIS AND TREATMENT OF NEONATAL MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY - REPORT OF 2 SIBLINGS [J].