Acute encephalopathy despite early therapy in a patient with homozygosity for E365K in the glutaryl-coenzyme A dehydrogenase gene

Kölker, S.; Ramaekers, Vincent; Zschocke, J.; Hoffmann, G. F.

doi:10.1067/mpd.2001.110303

Article (Scientific journals)

Acute encephalopathy despite early therapy in a patient with homozygosity for E365K in the glutaryl-coenzyme A dehydrogenase gene

Kölker, S.; Ramaekers, Vincent; Zschocke, J. et al.

2001 • In Journal of Pediatrics, 138 (2), p. 277-279

Peer Reviewed verified by ORBi

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https://hdl.handle.net/2268/168845

DOI
10.1067/mpd.2001.110303

PubMed
11174631

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Keywords :

Acute Disease; Brain Diseases, Metabolic, Inborn; Glutarates; Glutaryl-CoA Dehydrogenase; Homozygote; Humans; Infant; Male; Metabolism, Inborn Errors; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Treatment Outcome

Abstract :

[en] A patient with glutaric aciduria type I had an acute encephalopathic crisis despite early treatment. This report indicates that current therapeutic strategies may be insufficient for some high-risk patients and stresses the demand for new approaches in glutaric aciduria type I.

Disciplines :

Pediatrics
Neurology

Author, co-author :

Kölker, S.; University Children's Hospital, Department of General Pediatrics, Heidelberg, Germany, University Children's Hospital, Department of Neuropediatrics, Aachen, Germany

Ramaekers, Vincent ; University Children's Hospital, Aachen, Germany > Neuropadiatrics

Zschocke, J.; University Children's Hospital, Department of General Pediatrics, Heidelberg, Germany, University Children's Hospital, Department of Neuropediatrics, Aachen, Germany

Hoffmann, G. F.; University Children's Hospital, Department of General Pediatrics, Heidelberg, Germany, University Children's Hospital, Department of Neuropediatrics, Aachen, Germany

Language :

English

Title :

Acute encephalopathy despite early therapy in a patient with homozygosity for E365K in the glutaryl-coenzyme A dehydrogenase gene

Publication date :

February 2001

Journal title :

Journal of Pediatrics

ISSN :

0022-3476

eISSN :

1097-6833

Publisher :

Mosby, St. Louis, United States - Missouri

Volume :

138

Issue :

Pages :

277-279

Peer reviewed :

Peer Reviewed verified by ORBi

Available on ORBi :

since 07 June 2014

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Bibliography

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