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

doi:10.1016/j.ymgme.2012.04.010

Mild fumarase deficiency and a trial of low protein diet

Mol Genet Metab. 2012 Sep;107(1-2):241-2. doi: 10.1016/j.ymgme.2012.04.010. Epub 2012 Apr 20.

Authors

V E Kimonis¹, J Steller, I Sahai, D K Grange, J Shoemaker, B M Zelaya, R Mandell, K Shih, V Shih

Affiliation

¹ Division of Genetics and Metabolism, Department of Pediatrics, University of California, Irvine, CA, USA. vkimonis@uci.edu

PMID: 22595425
DOI: 10.1016/j.ymgme.2012.04.010

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.

Publication types

Case Reports

MeSH terms

Blood Chemical Analysis
Brain / pathology
Child
Diet, Protein-Restricted*
Electroencephalography
Female
Fumarate Hydratase / deficiency
Fumarate Hydratase / genetics
Humans
Metabolism, Inborn Errors / diagnosis
Metabolism, Inborn Errors / diet therapy*
Muscle Hypotonia / diagnosis
Muscle Hypotonia / diet therapy*
Mutation
Neuroimaging
Psychomotor Disorders / diagnosis
Psychomotor Disorders / diet therapy*

Substances

Fumarate Hydratase

Supplementary concepts

Fumaric aciduria