Journal of Inherited Metabolic Disease

, Volume 18, Issue 2, pp 173–176 | Cite as

Early signs and course of disease of glutaryl-CoA dehydrogenase deficiency

  • G. F. Hoffmann
  • H. J. Böhles
  • A. Burlina
  • M. Duran
  • J. Herwig
  • W. Lehnert
  • J. V. Leonard
  • A. Muntau
  • F. K. Plecko-Starting
  • A. Superti-Furga
  • F. K. Trefz
  • E. Christensen
Short Communication

Keywords

Public Health Internal Medicine Early Sign Dehydrogenase Deficiency 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. Amir N, Elpeleg ON, Shalev RS, Christensen E (1989) Glutaric aciduria type I: enzymatic and neuroradiologic investigations of two kindreds.J Pediatr 114: 983–989.Google Scholar
  2. Drigo P, Burlina AB, Battistella PA (1993) Subdural hematoma and glutaric aciduria type I.Brain Dev 15: 460–461.Google Scholar
  3. Haworth JC, Booth FA, Chudley AE et al (1991) Phenotypic variability in glutaric aciduria type I: report of fourteen cases in five Canadian Indian kindreds.J Pediatr 118: 52–58.Google Scholar
  4. Hoffmann GF, Trefz FK, Barth P et al (1991) Glutaryl-CoA dehydrogenase deficiency: a distinct encephalopathy.Pediatrics 88: 1194–1203.Google Scholar
  5. Kyllerman M, Skjeldal OH, Lundberg M et al (1994) Dystonia and dyskinesia in glutaric aciduria type I: Clinical heterogeneity and therapeutic considerations.Movement Disorders 9: 22–30.Google Scholar
  6. Morton DH, Bennett MJ, Seargeant LE, Nichter CA, Kelley RI (1991) Glutaric aciduria type I: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster county, Pennsylvania.Am J Med Genet 41: 89–95.Google Scholar
  7. Osaka H, Kimura S, Nezu A, Yamazaki S, Saitoh K, Yamaguchi S (1993) Chronic subdural hematoma as an initial manifestation of glutaric aciduria type I.Brain Dev 15: 125–127.Google Scholar

Copyright information

© Society for the Study of Inborn Errors of Metabolism and Kluwer Academic Publishers 1995

Authors and Affiliations

  • G. F. Hoffmann
    • 1
    • 2
  • H. J. Böhles
    • 3
  • A. Burlina
    • 6
  • M. Duran
    • 7
  • J. Herwig
    • 3
  • W. Lehnert
    • 4
  • J. V. Leonard
    • 8
  • A. Muntau
    • 5
  • F. K. Plecko-Starting
    • 9
  • A. Superti-Furga
    • 10
  • F. K. Trefz
    • 2
  • E. Christensen
    • 11
  1. 1.Department of PediatricsUniversity of MarburgGermany
  2. 2.Department of PediatricsUniversity of HeidelbergGermany
  3. 3.Department of PediatricsUniversity of FrankfurtGermany
  4. 4.Department of PediatricsUniversity of FreiburgGermany
  5. 5.Department of PediatricsUniversity MünchenGermany
  6. 6.Department of PediatricsUniversity of PadovaItaly
  7. 7.Department of PediatricsUniversity of UtrechtThe Netherlands
  8. 8.Department of PediatricsInstitute of Child HealthLondonUK
  9. 9.Department of PediatricsUniversity of GrazAustria
  10. 10.Department of PediatricsUniversity of ZürichSwitzerland
  11. 11.Department of PediatricsUniversity of CopenhagenDenmark

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