Literature DB >> 1432428

Variability of clinical presentation in fumarate hydratase deficiency.

O N Elpeleg1, N Amir, E Christensen.   

Abstract

A 5-year-old girl with a previous diagnosis of cerebral palsy, nonprogressive psychomotor retardation, and hypotonia was found to excrete excessive fumaric acid in urine. Fumarate hydratase activity in skin fibroblasts was 10% of the control value. This case underscores the clinical heterogeneity of neurometabolic disorders and the importance of organic acid analysis in the diagnosis of static encephalopathy.

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Year:  1992        PMID： 1432428     DOI： 10.1016/s0022-3476(05)81910-9

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  4 in total

1.  Abnormalities in succinylpurines in fumarase deficiency: possible role in pathogenesis of CNS impairment.

Authors:  J Zeman; J Krijt; L Stratilová; H Hansíková; L Wenchich; S Kmoch; P Chrastina; J Houstek
Journal:  J Inherit Metab Dis       Date:  2000-06       Impact factor: 4.982

Review 2.  Fumaric aciduria: an overview and the first Brazilian case report.

Authors:  Gabriella Allegri; Marcia J Fernandes; Fernanda B Scalco; Patricia Correia; Ruth E Simoni; Juan C Llerena; Maria L Costa de Oliveira
Journal:  J Inherit Metab Dis       Date:  2010-06-15       Impact factor: 4.982

3.  Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency.

Authors:  T Bourgeron; D Chretien; J Poggi-Bach; S Doonan; D Rabier; P Letouzé; A Munnich; A Rötig; P Landrieu; P Rustin
Journal:  J Clin Invest       Date:  1994-06       Impact factor: 14.808

4.  The Relationship between Mitochondrial Respiratory Chain Activities in Muscle and Metabolites in Plasma and Urine: A Retrospective Study.

Authors:  Corinne Alban; Elena Fatale; Abed Joulani; Polina Ilin; Ann Saada
Journal:  J Clin Med       Date:  2017-03-10       Impact factor: 4.241
  4 in total

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