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Article

GLRX5-associated [Fe-S] cluster biogenesis disorder: further characterisation of the neurological phenotype and long-term outcome.

Orphanet journal of rare diseases - 3 Nov 2021

Sankaran Bindu Parayil, Gupta Sachin, Tchan Michel, Devanapalli Beena, Rahman Yusof, Procopis Peter, Bhattacharya Kaustuv

Abstract excerpt

BACKGROUND: Identification and characterisation of monogenic causes of complex neurological phenotypes are important for genetic counselling and prognostication. Bi-allelic pathogenic variants in the gene encoding GLRX5, a protein involved in the early steps of Fe-S cluster biogenesis, are rare and cause two distinct phenotypes: isolated sideroblastic anemia and a neurological phenotype with variant non-ketotic...

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Identifiers

PMID: 34732213
DOI: 10.1186/s13023-021-02073-z
PMCID: PMC8565018

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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