Literature DB >> 856963

Glutaric aciduria: biochemical and morphologic considerations.

S I Goodman, M D Norenberg, R H Shikes, D J Breslich, P G Moe.   

Abstract

Biochemical and morphologic studies on a patient with glutaric aciduria are presented. Generalized aminoaciduria, alpha-aminoadipic aciduria, and saccharopinuria were noted just prior to death, as well as glutaconic aciduria greater than beta-hydroxyglutaric aciduria. Mutant liver mitochondria did not oxidize glutaryl-CoA to glutaconyl-CoA, indicating deficiency of glytaryl-CoA dehydrogenase. Autopsy revealed cerebral edema, ischemic neuronal changes, and striatal degeneration in the brain with fatty changes in liver, kidney, and myocardium.

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Year:  1977        PMID： 856963     DOI： 10.1016/s0022-3476(77)81240-7

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


  54 in total

1.  3-Hydroxyglutaric and glutaric acids are neurotoxic through NMDA receptors in vitro.

Authors:  S Kölker; B Ahlemeyer; J Krieglstein; G F Hoffmann
Journal:  J Inherit Metab Dis       Date:  1999-05       Impact factor: 4.982

2.  Glutaric aciduria type I: pathomechanisms of neurodegeneration.

Authors:  K Ullrich; B Flott-Rahmel; P Schluff; U Musshoff; A Das; T Lücke; R Steinfeld; E Christensen; C Jakobs; A Ludolph; A Neu; R Röper
Journal:  J Inherit Metab Dis       Date:  1999-06       Impact factor: 4.982

3.  Inhibition of energy production in vitro by glutaric acid in cerebral cortex of young rats.

Authors:  C G Silva; A R Silva; C Ruschel; C Helegda; A T Wyse; C M Wannmacher; C S Dutra-Filho; M Wajner
Journal:  Metab Brain Dis       Date:  2000-06       Impact factor: 3.584

4.  Vigabatrin in the treatment of glutaric aciduria type I.

Authors:  B Francois; J Jaeken; P Gillis
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

Review 5.  Challenges for basic research in glutaryl-CoA dehydrogenase deficiency.

Authors:  S Kölker; K A Strauss; S I Goodman; G F Hoffmann; J G Okun; D M Koeller
Journal:  J Inherit Metab Dis       Date:  2004       Impact factor: 4.982

6.  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

7.  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

8.  Acute extrapyramidal syndrome in mild ornithine transcarbamylase deficiency: metabolic stroke involving the caudate and putamen without metabolic decompensation.

Authors:  C E Keegan; D M Martin; D J Quint; J L Gorski
Journal:  Eur J Pediatr       Date:  2003-02-07       Impact factor: 3.183

9.  Specific glutaryl-CoA dehydrogenating activity is deficient in cultured fibroblasts from glutaric aciduria patients.

Authors:  D B Hyman; K Tanaka
Journal:  J Clin Invest       Date:  1984-03       Impact factor: 14.808

10.  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
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