title: 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.521C>G (p.P174R) and c.908T>C (p.L303S)]. A trial of low protein diet did not reduce fumaric aciduria.
authors.affiliation: Division of Genetics and Metabolism, Department of Pediatrics, University of California, Irvine, CA, USA. vkimonis@uci.edu
authors.forename: V E
authors.initials: VE
authors.lastname: Kimonis
authors.forename: J
authors.initials: J
authors.lastname: Steller
authors.forename: I
authors.initials: I
authors.lastname: Sahai
authors.forename: D K
authors.initials: DK
authors.lastname: Grange
authors.forename: J
authors.initials: J
authors.lastname: Shoemaker
authors.forename: B M
authors.initials: BM
authors.lastname: Zelaya
authors.forename: R
authors.initials: R
authors.lastname: Mandell
authors.forename: K
authors.initials: K
authors.lastname: Shih
authors.forename: V
authors.initials: V
authors.lastname: Shih
mesh_terms: D001774:Blood Chemical Analysis; D001921:Brain / Q000473:pathology; D002648:Child; D018753:Diet, Protein-Restricted; D004569:Electroencephalography; D005260:Female; D005649:Fumarate Hydratase / Q000172:deficiency / Q000235:genetics; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000178:diet therapy*; D009123:Muscle Hypotonia / Q000175:diagnosis / Q000178:diet therapy*; D009154:Mutation; D059906:Neuroimaging; D011596:Psychomotor Disorders / Q000175:diagnosis / Q000178:diet therapy*
chemical_list: D005649:Fumarate Hydratase