Literature DB >> 15985591

Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency.

S Külkens1, I Harting, S Sauer, J Zschocke, G F Hoffmann, S Gruber, O A Bodamer, S Kölker.   

Abstract

Neurologic disease in glutaryl-CoA dehydrogenase (GCDH) deficiency usually presents with acute encephalopathic crises before 2 years of age. The authors report two previously asymptomatic patients with macrocephaly presenting with progressive neurologic deterioration and a severe leukoencephalopathy during adolescence or adulthood.

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Year:  2005        PMID： 15985591     DOI： 10.1212/01.WNL.0000167428.12417.B2

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  31 in total

1.  Adult-onset glutaric aciduria type I presenting with white matter abnormalities and subependymal nodules.

Authors:  T M Pierson; Mani Nezhad; Matthew A Tremblay; Richard Lewis; Derek Wong; Noriko Salamon; Nancy Sicotte
Journal:  Neurogenetics       Date:  2015-08-29       Impact factor: 2.660

2.  Energy metabolism is compromised in skeletal muscle of rats chronically-treated with glutaric acid.

Authors:  Gustavo da C Ferreira; Patrícia F Schuck; Carolina M Viegas; Anelise Tonin; Alexandra Latini; Carlos S Dutra-Filho; Angela T S Wyse; Clóvis M D Wannmacher; Carmen R Vargas; Moacir Wajner
Journal:  Metab Brain Dis       Date:  2007-01-13       Impact factor: 3.584

3.  Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I).

Authors:  S Kölker; E Christensen; J V Leonard; C R Greenberg; A B Burlina; A P Burlina; M Dixon; M Duran; S I Goodman; D M Koeller; E Müller; E R Naughten; E Neumaier-Probst; J G Okun; M Kyllerman; R A Surtees; B Wilcken; G F Hoffmann; P Burgard
Journal:  J Inherit Metab Dis       Date:  2007-01-03       Impact factor: 4.982

4.  Glutaric Acid Affects Pericyte Contractility and Migration: Possible Implications for GA-I Pathogenesis.

Authors:  Eugenia Isasi; Nils Korte; Verónica Abudara; David Attwell; Silvia Olivera-Bravo
Journal:  Mol Neurobiol       Date:  2019-05-18       Impact factor: 5.590

Review 5.  Current concepts in organic acidurias: understanding intra- and extracerebral disease manifestation.

Authors:  Stefan Kölker; Peter Burgard; Sven W Sauer; Jürgen G Okun
Journal:  J Inherit Metab Dis       Date:  2013-03-20       Impact factor: 4.982

6.  Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation.

Authors:  M J Fraidakis; C Liadinioti; L Stefanis; A Dinopoulos; R Pons; M Papathanassiou; J Garcia-Villoria; A Ribes
Journal:  JIMD Rep       Date:  2014-09-26

7.  Clinical, biochemical and molecular findings of 24 Brazilian patients with glutaric acidemia type 1: 4 novel mutations in the GCDH gene.

Authors:  Angela Sitta; Gilian Guerreiro; Daniella de Moura Coelho; Vitoria Volfart da Rocha; Bianca Gomes Dos Reis; Carmen Sousa; Laura Vilarinho; Moacir Wajner; Carmen Regla Vargas
Journal:  Metab Brain Dis       Date:  2020-10-16       Impact factor: 3.584

8.  Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models-a cohort study in 180 patients.

Authors:  Sven F Garbade; Cheryl R Greenberg; Mübeccel Demirkol; Gülden Gökçay; Antonia Ribes; Jaume Campistol; Alberto B Burlina; Peter Burgard; Stefan Kölker
Journal:  J Inherit Metab Dis       Date:  2014-05-09       Impact factor: 4.982

9.  Biochemistry and bioenergetics of glutaryl-CoA dehydrogenase deficiency.

Authors:  S W Sauer
Journal:  J Inherit Metab Dis       Date:  2007-09-21       Impact factor: 4.982

10.  White matter injury induced by perinatal exposure to glutaric acid.

Authors:  Silvia Olivera-Bravo; Eugenia Isasi; Anabel Fernández; Juan Carlos Rosillo; Marcie Jiménez; Gabriela Casanova; María Noel Sarlabós; Luis Barbeito
Journal:  Neurotox Res       Date:  2013-12-03       Impact factor: 3.911
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