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Article

Inborn error of amino acid synthesis: human glutamine synthetase deficiency.

Journal of inherited metabolic disease - 1 Jan 2000

Häberle Johannes, Görg Boris, Toutain Annick, Rutsch Frank, Benoist Jean-François, Gelot Antoinette, Suc Annie-Laure, Koch Hans Georg, Schliess Freimut, Häussinger Dieter

Abstract excerpt

Glutamine synthetase (GS) is ubiquitously expressed in human tissues, being involved in ammonia detoxification and interorgan nitrogen flux. Inherited systemic deficiency of glutamine based on a defect of glutamine synthetase was recently described in two newborns with an early fatal course of disease. Glutamine was largely absent in their serum, urine and cerebrospinal fluid. Each of the patients had a...

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Identifiers

PMID: 16763901
DOI: 10.1007/s10545-006-0256-5

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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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