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Thiamine-responsive encephalopathy

Disease definition

Thiamine-responsive encephalopathy is a Wernicke-like encephalopathy (see this term) characterized by seizures responsive to high doses of thiamine.

ORPHA:199348

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Adolescent
  • ICD-10: -
  • OMIM: 607483
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Summary

Epidemiology

Two cases have been described so far.

Clinical description

Clinical features include epilepsy, nystagmus, ophthalmoplegia and ataxia.

Etiology

The disease results from mutations in the SLC19A3 gene, encoding a thiamine transporter.

Genetic counseling

Transmission is autosomal recessive.

- Last update: October 2009

Additional information

Further information on this disease

Health care resources for this disease

Research activities on this disease

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