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Article

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

Molecular genetics and metabolism - 1 May 2011

Häberle Johannes, Shahbeck Noora, Ibrahim Khalid, Hoffmann Georg F, Ben-Omran Tawfeg

Abstract excerpt

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.

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Identifiers

PMID: 21353613
DOI: 10.1016/j.ymgme.2011.02.001

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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