Mild fumarase deficiency and a trial of low protein diet

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.521 C>G (p.P174R) and c.908 T>C (p.L303S)]. A trial of low protein diet did not reduce fumaric aciduria.