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Article

Multiple congenital anomalies in two fetuses with glutathione-synthetase deficit (GSS).

Clinical genetics - 1 Dec 2024

Jury Jeanne, Benoist Jean-François, Joubert Madeleine, Quelin Chloé, Besnard Thomas, Conrad Solène, Le Vaillant Claudine, Bézieau Stéphane, Isidor Bertrand, Attié-Bitach Tania, Cogné Benjamin, Vincent Marie

Abstract excerpt

Glutathione synthetase deficiency is a rare inborn metabolic disease usually caused by biallelic variants in GSS. Clinical severity varies from isolated hemolytic anemia, sometimes associated with chronic metabolic acidosis and 5-oxoprolinuria, to severe neurological phenotypes with neonatal lethality. Here we report on two fetal siblings from two pregnancies with glutathione synthetase deficiency exhibiting...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 39221916
DOI: 10.1111/cge.14613

Genes

GSS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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