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Article

Wolcott-Rallison syndrome with 3-hydroxydicarboxylic aciduria and lethal outcome.

Journal of inherited metabolic disease - 1 Dec 2008

Søvik O, Njølstad P R, Jellum E, Molven A

Abstract excerpt

Wolcott-Rallison syndrome (WRS) (OMIM 226980) is a rare, autosomal recessive disorder with infancy-onset diabetes mellitus, multiple epiphyseal dysplasia, osteopenia, mental retardation or developmental delay, and hepatic and renal dysfunction as main clinical findings. Patients with WRS have mutations in the EIF2AK3 gene, which encodes the pancreatic eukaryotic translation initiation factor 2-alpha kinase 3. We...

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PMID: 18500571
DOI: 10.1007/s10545-008-0866-1

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

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