EFFECT OF BETAINE ON S-ADENOSYLMETHIONINE LEVELS IN THE CEREBROSPINAL-FLUID IN A PATIENT WITH METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY AND PERIPHERAL NEUROPATHY

被引：23

作者：

KISHI, T

KAWAMURA, I

HARADA, Y

EGUCHI, T

SAKURA, N

UEDA, K

NARISAWA, K

ROSENBLATT, DS

机构：

[1] HIROSHIMA UNIV,SCH MED,DEPT PEDIAT,HIROSHIMA 730,JAPAN

[2] TOHOKU UNIV,SCH MED,DEPT BIOMED GENET,SENDAI 982,JAPAN

[3] MCGILL UNIV,ROYAL VICTORIA HOSP,DIV MED GENET,MONTREAL H3A 1A1,PQ,CANADA

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1994年 / 17卷 / 05期

关键词：

D O I：

10.1007/BF00711591

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

A 16-year-old Japanese girl with 5,10-methylenetetrahydrofolate reductase deficiency showed peripheral neuropathy. There were no significant responses to vitamin B-6, vitamin B-12 or folate, given alone or in combination. With the addition of betaine monohydrate, she has been free from gait disturbance and muscle weakness. The concentration of S-adenosylmethionine in cerebrospinal fluid, which was undetectable before receiving betaine monohydrate, increased to about the normal level 24 months after treatment with betaine monohydrate.

引用

页码：560 / 565

页数：6

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