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

@article{Svik2008WolcottRallisonSW,
  title={Wolcott–Rallison syndrome with 3-hydroxydicarboxylic aciduria and lethal outcome},
  author={Oddmund S{\o}vik and P{\aa}l Rasmus Nj{\o}lstad and Egil Jellum and Anders Molven},
  journal={Journal of Inherited Metabolic Disease},
  year={2008},
  volume={31},
  pages={293-297}
}
SummaryWolcott-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 report a female patient who developed insulin-requiring diabetes at 2.5… 

Microscopic and ultrastructural features in Wolcott–Rallison syndrome, a permanent neonatal diabetes mellitus: about two autopsy cases

Wolcott–Rallison syndrome (WRS) is a rare autosomal recessive disorder characterized by the association of permanent neonatal or early‐infancy insulin‐dependent diabetes, multiple bone dysplasia,

Frequency and spectrum of Wolcott–Rallison syndrome in Saudi Arabia: a systematic review

  • A. Habeb
  • Medicine
    The Libyan journal of medicine
  • 2013
Establishing a national or international registry for WRS would provide more reliable data on this rare condition and indicate that KSA has the largest collection of patients with WRS worldwide, and nine of the identifiable EIF2AK3 mutations appear to be confined to Arabs.

Two novel mutations in the EIF2AK3 gene in children with Wolcott–Rallison syndrome

Two novel mutations in the EIF2AK3 gene in children with Wolcott–Rallison syndrome are identified.

Wolcott–Rallison syndrome due to the same mutation (W522X) in EIF2AK3 in two unrelated families and review of the literature *

The Wolcott–Rallison syndrome due to the same mutation (W522X) in EIF2AK3 in two unrelated families and review of the literature.

Update in neonatal diabetes

Context is given to new data on neonatal diabetes mellitus, a rare group of insulin-requiring monogenic forms of diabetes presenting at birth or shortly thereafter, to give context to genetic studies critical in the diagnosis and treatment of these patients.

Pediatric hypoglycemia.

Coordinating Mitochondrial Biology Through the Stress-Responsive Regulation of Mitochondrial Proteases.

Identification of Novel Mutation in EIF2AK3 Gene as a Causal Variant in a Family With Rare Disease

Sequencing analysis of the EIF2AK3 gene in an Iranian girl suspicious for Wolcott-Rallison syndrome identified a homozygous novel non-sense mutation in exon 9 of the gene, Y479X.

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