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

Research output: Contribution to journalArticlepeer-review

4 Scopus citations

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.

Original languageEnglish
Pages (from-to)241-242
Number of pages2
JournalMolecular genetics and metabolism
Volume107
Issue number1-2
DOIs
StatePublished - Sep 1 2012

Keywords

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

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