Mild fumarase deficiency and a trial of low protein diet
VE Kimonis, J Steller, I Sahai, DK Grange… - Molecular genetics and …, 2012 - Elsevier
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.
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.
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