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Article

Diagnosis of glutathione synthetase deficiency in newborn screening.

Journal of inherited metabolic disease - 1 Dec 2009

Simon E, Vogel M, Fingerhut R, Ristoff E, Mayatepek E, Spiekerkötter U

Abstract excerpt

Glutathione synthetase (GSS) deficiency is a rare disorder of glutathione metabolism with varying clinical severity. Patients may present with haemolytic anaemia alone or together with acidosis and central nervous system impairment. Diagnosis is made by clinical presentation and detection of elev...

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Share to Amino Acid Metabolism, Inborn Errors
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Share to GSS gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19728142
DOI: 10.1007/s10545-009-1213-x

Genes

GSS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19728142-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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