Molecular Genetics and Metabolism 2012-09-01

Mild fumarase deficiency and a trial of low protein diet.

V E Kimonis, J Steller, I Sahai, D K Grange, J Shoemaker, B M Zelaya, R Mandell, K Shih, V Shih

Index: Mol. Genet. Metab. 107(1-2) , 241-2, (2012)

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Abstract

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.521C>G (p.P174R) and c.908T>C (p.L303S)]. A trial of low protein diet did not reduce fumaric aciduria.Copyright © 2012 Elsevier Inc. All rights reserved.