FOLIC-ACID DEPENDENT HYPER-SARCOSINEMIA

被引：11

作者：

BLOM, W ^{[1
]}

FERNANDES, J ^{[1
]}

机构：

[1] ACAD HOSP ROTTERDAM,SOPHIA CHILDRENS HOSP,NEONATAL UNIT,ROTTERDAM,NETHERLANDS

来源：

CLINICA CHIMICA ACTA | 1979年 / 91卷 / 02期

关键词：

D O I：

10.1016/0009-8981(79)90445-5

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

Hypersarcosinaemia is a rare inborn error of metabolism, caused by a deficiency of the sarcosine dehydrogenase complex with tetrahydrofolate as a formaldehyde acceptor needed for the sarcosine-glycine conversion. Prolonged therapy with folic acid on a hypersarcosinaemic patient resulted in a significant effect on the urinary excretion of sarcosine, leading to the conclusion that the patient has a folic acid dependent hypersarcosinaemia. © 1979.

引用

页码：117 / 125

页数：9

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