Treatable Intellectual Disability

Thiamine Responsive Encephalopathy

BIOCHEMICAL DEFECT

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DIAGNOSIS

Gene
SLC19A3 (AR)

Diagnostic Test
SLC19A3 Gene Test

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SIGNS & SYMPTOMS

Neurological
Ataxia, nystagmus, ophthalmoplegia, cerebral atrophy & thalamic lesions (Brain MRI)

Non-Neurological
- - -

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THERAPY

Treatment
Thiamine Supplement

Level of Evidence
4-5

Clinical Practice
Standard of Care

Treatment Effect
Improves neurological manifestations



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Thiamine Responsive Encephalopathy

Thiamine-responsive encephalopathy is a Wernicke-like encephalopathy characterized by seizures responsive to high doses of thiamine. Two cases have been described so far. Clinical features include epilepsy, nystagmus, ophthalmoplegia and ataxia (Source: Orphanet)

No information available from this source.

This disease is not (yet) listed on their website.