Literature DB >> 624191

Glutaric aciduria in progressive choreo-athetosis.

N J Brandt, S Brandt, E Christensen, N Gregersen, K Rasmussen.   

Abstract

The clinical symptoms in a 10-year-old girl with progressive dystonic cerebral palsy are described. The biochemical findings were dominated by large amounts of glutaric acid in the urine. The disorder is caused by impairment of the degradation of glutaryl-CoA. A survey is given of the clinical and biochemical symptoms, based on the five cases reported so far. It is concluded that patients with progressive dystonic palsy should be examined for disorders in the metabolism of organic acids.

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Year:  1978        PMID： 624191     DOI： 10.1111/j.1399-0004.1978.tb04131.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  9 in total

1.  Early prenatal diagnosis in two pregnancies at risk for glutaryl-CoA dehydrogenase deficiency.

Authors:  E Holme; M Kyllerman; S Lindstedt
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

2.  Glutaric aciduria type 1: biochemical investigations and postmortem findings.

Authors:  M J Bennett; N Marlow; R J Pollitt; J K Wales
Journal:  Eur J Pediatr       Date:  1986-10       Impact factor: 3.183

3.  Glutaric aciduria type I. Brain CT features and a diagnostic pitfall.

Authors:  H Mandel; J Braun; O el-Peleg; E Christensen; M Berant
Journal:  Neuroradiology       Date:  1991       Impact factor: 2.804

4.  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

5.  Symptoms and signs in organic acidurias.

Authors:  N J Brandt
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

6.  Biochemical studies in a patient with defects in the metabolism of acyl-CoA and sarcosine: another possible case of glutaric aciduria type II.

Authors:  N Gregersen; S Kølvraa; K Rasmussen; E Christensen; N J Brandt; F Ebbesen; F H Hansen
Journal:  J Inherit Metab Dis       Date:  1980       Impact factor: 4.982

7.  Atypical riboflavin-responsive glutaric aciduria, and deficient peroxisomal glutaryl-CoA oxidase activity: a new peroxisomal disorder.

Authors:  M J Bennett; R J Pollitt; S I Goodman; D E Hale; J Vamecq
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

8.  Antenatal diagnosis of glutaric acidemia.

Authors:  S I Goodman; D A Gallegos; C J Pullin; B Halpern; R J Truscott; G Wise; B Wilcken; E D Ryan; D T Whelen
Journal:  Am J Hum Genet       Date:  1980-09       Impact factor: 11.025

9.  Glutaric aciduria yype 1: First reported cases in three Saudi patients.

Authors:  R Coates; M Rashed; Z Rahbeeni; S Al-Garawi; A N Al-Odaib; N Sakati; G Gascon; H Worthen; P T Ozand
Journal:  Ann Saudi Med       Date:  1994-07       Impact factor: 1.526
  9 in total

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