Literature DB >> 579437

Intermittently progressive dyskinetic syndrome in glutaric aciduria.

M Kyllerman, G Steen.   

Abstract

A case of glutaric aciduria, a recently discovered inborn error of tryptophan-lysine metabolism, is reported. Development was normal during the first year of life. Signs of dyskinesia and dystonia associated with developmental regression occurred twice during gastrointestinal disease. By two years of age, a dystonic syndrome with a severe motor and language disability had resulted.

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Year:  1977        PMID: 579437     DOI: 10.1055/s-0028-1091535

Source DB:  PubMed          Journal:  Neuropadiatrie        ISSN: 0028-3797


  10 in total

1.  Infant mice with glutaric acidaemia type I have increased vulnerability to 3-nitropropionic acid toxicity.

Authors:  K B Bjugstad; L S Crnic; S I Goodman; C R Freed
Journal:  J Inherit Metab Dis       Date:  2006-08-30       Impact factor: 4.982

2.  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

3.  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

4.  3-methylglutaconic aciduria: report on a sibship with infantile progressive encephalopathy.

Authors:  J Greter; B Hagberg; G Steen; U Söderhjelm
Journal:  Eur J Pediatr       Date:  1978-12-01       Impact factor: 3.183

5.  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

6.  Glutaric aciduria type I presenting with hypoglycaemia.

Authors:  D B Dunger; G J Snodgrass
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

7.  A familial progressive neurodegenerative disease with 2-oxoglutaric aciduria.

Authors:  A Kohlschütter; A Behbehani; U Langenbeck; M Albani; P Heidemann; G Hoffmann; J Kleineke; W Lehnert; U Wendel
Journal:  Eur J Pediatr       Date:  1982-02       Impact factor: 3.183

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

10.  Inconsistencies in the Nutrition Management of Glutaric Aciduria Type 1: An International Survey.

Authors:  Laurie Bernstein; Curtis R Coughlin; Morgan Drumm; Steven Yannicelli; Fran Rohr
Journal:  Nutrients       Date:  2020-10-16       Impact factor: 5.717

  10 in total

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