Mild fumarase deficiency and a trial of low protein diet

被引：5

作者：

Kimonis, V. E. ^{[1
,7
]}

Steller, J. ^{[1
]}

Sahai, I. ^{[2
]}

Grange, D. K. ^{[3
]}

Shoemaker, J. ^{[4
]}

Zelaya, B. M. ^{[5
]}

Mandell, R. ^{[6
]}

Shih, K. ^{[6
]}

Shih, V. ^{[6
]}

机构：

[1] Univ Calif Irvine, Dept Pediat, Div Genet & Metab, Orange, CA 92868 USA

[2] Childrens Hosp, Div Genet & Metab, Boston, MA 02115 USA

[3] Washington Univ, St Louis Childrens Hosp, Dept Pediat, Div Med Genet, St Louis, MO 63110 USA

[4] St Louis Univ, Sch Med, Edward A Doisy Dept Biochem & Mol Biol, St Louis, MO 63104 USA

[5] Univ Coll Med Peoria, Peoria, IL USA

[6] Massachusetts Gen Hosp, Amino Acid Lab, Boston, MA 02114 USA

[7] So Illinois Univ, Sch Med, Dept Pediat, Div Genet, Springfield, IL USA

来源：

MOLECULAR GENETICS AND METABOLISM | 2012年 / 107卷 / 1-2期

关键词：

Fumarase; Fumarate hydratase; Fumaric aciduria; Developmental delay; Hypotonia; Ventriculomegaly;

D O I：

10.1016/j.ymgme.2012.04.010

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We report clinical findings in a 12-year-old girl with a mild case of fumarase deficiency who continues to make progress. She has two novel mutations of the fumarase gene [c.521 C>G (p.P174R) and c.908 T>C (p.L303S)]. A trial of low protein diet did not reduce fumaric aciduria. (C) 2012 Elsevier Inc. All rights reserved.

引用

页码：241 / 242

页数：2

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