MALONIC ACIDURIA

被引：25

作者：

OZAND, PT

NYHAN, WL

ALAQEEL, A

CHRISTODOULOU, J

机构：

[1] KING FAISAL SPECIALIST HOSP & RES CTR,DEPT PEDIAT,RIYADH 11211,SAUDI ARABIA

[2] ARMED FORCES HOSP,DEPT PEDIAT,RIYADH,SAUDI ARABIA

[3] UNIV CALIF SAN DIEGO,LA JOLLA,CA 92093

[4] MURDOCH RES INST,MELBOURNE,VIC,AUSTRALIA

来源：

BRAIN & DEVELOPMENT | 1994年 / 16卷

关键词：

MALONIC ACIDURIA; ORGANIC ACIDURIA;

D O I：

10.1016/0387-7604(94)90091-4

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Three infants with malonic aciduria are reported, one of whom could be studied in detail. All children had severe and progressive encephalopathy with intermittent ketoacidosis and hypoglycemia. One infant died of cardiomyopathy. Biochemical studies revealed that one patient had neither malonyl-CoA decarboxylase nor glutaryl-CoA dehydrogenase deficiencies. This variant of malonic aciduria is different from that of four patients previously reported, both in its clinical and biochemical presentations. The biochemical pathology of this variant malonic aciduria is unknown.

引用

页码：7 / 11

页数：5

共 17 条

[1]

BABIOR BM, 1973, J BIOL CHEM, V248, P1445

[2] CT AND MR OF THE BRAIN IN THE DIAGNOSIS OF ORGANIC ACIDEMIAS - EXPERIENCES FROM 107 PATIENTS [J].