Search for a rare disease
Other search option(s)
Thiamine-responsive encephalopathy is a Wernicke-like encephalopathy (see this term) characterized by seizures responsive to high doses of thiamine.
ORPHA:199348Classification level: Disorder
- Synonym(s): -
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Adolescent
- ICD-10: -
- OMIM: 607483
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
Two cases have been described so far.
Clinical features include epilepsy, nystagmus, ophthalmoplegia and ataxia.
The disease results from mutations in the SLC19A3 gene, encoding a thiamine transporter.
Transmission is autosomal recessive.