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Neuropediatrics 1977; 8(4): 397-404
DOI: 10.1055/s-0028-1091535
Original article

© 1977 by Thieme Medical Publishers, Inc.

Intermittently Progressive Dyskinetic Syndrome in Glutaric Aciduria

M. Kyllerman1 , G. Steen2
  • 1Department of Pediatrics II, University of Gothenburg, Sahlgren's Hospital, Gothenburg, Sweden
  • 2East Hospital and Department of Clinical Chemistry, University of Gothenburg, Sahlgren's Hospital, Gothenburg, Sweden
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Publication History

1977

1977

Publication Date:
18 November 2008 (online)

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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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