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Mol Genet Metab. 2011 May;103(1):89-91. doi: 10.1016/j.ymgme.2011.02.001. Epub 2011 Feb 4.

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

Author information

  • 1University Children's Hospital Zurich, Division of Metabolism, 8032 Zürich, Switzerland. Johannes.Haeberle@kispi.uzh.ch

Abstract

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

Copyright © 2011 Elsevier Inc. All rights reserved.

PMID:
21353613
[PubMed - indexed for MEDLINE]
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