Cobalamin C defect: a patient of late-onset type with homozygous p. R132*mutation

被引：0

作者：

Kilic, Mustafa ^{[1
]}

Ozgul, Riza Koksal ^{[1
]}

Dursun, Ali ^{[1
]}

Tokatli, Aysegul ^{[1
]}

Kalkanoglu-Sivri, Hatice Serap ^{[1
]}

Anlar, Banu ^{[2
]}

Fowler, Brian ^{[3
]}

Coskun, Turgay ^{[1
]}

机构：

[1] Hacettepe Univ Fac Med, Dept Pediat, Div Pediat Metab & Nutr, Ankara, Turkey

[2] Hacettepe Univ Fac Med, Dept Pediat, Div Pediat Neurol, Ankara, Turkey

[3] Univ Childrens Hosp, Basel, Switzerland

来源：

TURKISH JOURNAL OF PEDIATRICS | 2013年 / 55卷 / 06期

关键词：

cobalamin C (cblC) type; late-onset form; hyperhomocysteinemia; methylmalonic aciduria and homocystinuria; vitamin B-12; MMACHC gene; COMBINED METHYLMALONIC ACIDURIA; CBLC TYPE; CLINICAL HETEROGENEITY; COMBINED HOMOCYSTINURIA; DISEASE; SPECTRUM; ADOLESCENT; MUTATION; MMACHC; DEFICIENCY;

D O I：

暂无

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Methylmalonic aciduria and homocystinuria, cobalamin C (cblC) type, is the most frequent inborn error of vitamin B-12 metabolism. The clinical phenotype includes systemic symptoms and neurological decompensation. Affected patients can be divided into two broad groups, as early-onset and late-onset. We present a Turkish patient who had neurological impairment at the age of four years as presented with late-onset cblC defect. Homozygous c. 394C>T; p.R132* mutation in the MMACHC gene was detected. The patient was treated with hydroxocobalamin, betaine and folic acid combination with good clinical and biochemical response.

引用

页码：633 / 636

页数：4

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