INFANTILE ISOLATED SULFITE OXIDASE DEFICIENCY - REPORT OF A CASE WITH NEGATIVE SULFITE TEST AND NORMAL SULFATE EXCRETION

被引：27

作者：

VANDERKLEIVANMOORSEL, JM

SMIT, LME

BROCKSTEDT, M

JAKOBS, C

DORCHE, C

DURAN, M

机构：

[1] UNIV CHILDRENS HOSP UTRECHT,3512 LK UTRECHT,NETHERLANDS

[2] HOP DEBROUSSE,SERV BIOCHIM,F-69005 LYONS,FRANCE

来源：

EUROPEAN JOURNAL OF PEDIATRICS | 1991年 / 150卷 / 03期

关键词：

SULFITE; SULFITE OXIDASE; S-SULPHOCYSTEINE; HYPOTONIA; PSYCHOMOTOR RETARDATION;

D O I：

10.1007/BF01963565

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

We present the clinical and biochemical data of a patient with infantile isolated sulphite oxidase deficiency with late onset of symptoms. A comparison of the biochemical parameters is made with the neonatal type of this disease and with the data of described patients with the combined defect of sulphite oxidase and xanthine oxidase, due to molybdenum cofactor deficiency. False-negative sulphite dip stick test as a pitfall in the diagnosis of sulphite oxidase deficiency is discussed.

引用

页码：196 / 197

页数：2

共 9 条

[1]

BROWN GK, 1989, NEUROLOGY, V39, P252

[2] COMBINED DEFICIENCY OF XANTHINE-OXIDASE AND SULFITE OXIDASE - DIAGNOSIS OF A NEW CASE FOLLOWED BY AN ANTENATAL DIAGNOSIS [J].