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Natural course of glutamine synthetase deficiency in a 3 year old patient

Glutamine deficiency with hyperammonemia due to an inherited defect of glutamine synthetase (GS) was found in a 2year old patient. He presented neonatal seizures and developed chronic encephalopathy. Thus, GS deficiency leads to severe neurological disease but is not always early lethal.

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Bibliographic Details
Main Authors: Häberle, Johannes (Author) , Shahbeck, Noora (Author) , Ibrahim, Khalid (Author) , Hoffmann, Georg F. (Author) , Ben-Omran, Tawfeg (Author)
Format: Article (Journal)
Language:English
Published: 2011
In: Molecular genetics and metabolism
Year: 2011, Volume: 103, Issue: 1, Pages: 89-91
ISSN:1096-7206
DOI:10.1016/j.ymgme.2011.02.001
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1016/j.ymgme.2011.02.001
Verlag, lizenzpflichtig, Volltext: https://www.sciencedirect.com/science/article/pii/S1096719211000448
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Author Notes:Johannes Häberle, Noora Shahbeck, Khalid Ibrahim, Georg F. Hoffmann, Tawfeg Ben-Omran
Description
Summary:Glutamine deficiency with hyperammonemia due to an inherited defect of glutamine synthetase (GS) was found in a 2year old patient. He presented neonatal seizures and developed chronic encephalopathy. Thus, GS deficiency leads to severe neurological disease but is not always early lethal.
Item Description:Gesehen am 25.07.2022
Physical Description:Online Resource
ISSN:1096-7206
DOI:10.1016/j.ymgme.2011.02.001

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