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Article

Biotin-thiamine-responsive basal ganglia disease: catastrophic consequences of delay in diagnosis and treatment.

Neurological research - 1 Feb 2017

Algahtani Hussein, Ghamdi Saeed, Shirah Bader, Alharbi Bader, Algahtani Raghad, Bazaid Abdulrahman

Abstract excerpt

BACKGROUND: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is an autosomal recessive neurometabolic disorder caused by mutations in the SLC19A3 gene. The disease is characterized by subacute encephalopathy with confusion, dysphagia, dysarthria, and seizures. METHODS: We diagnosed a family affected by BTBGD and studied them including prognosis of cases when diagnosed and treated early in the disease...

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PMID: 27905264
DOI: 10.1080/01616412.2016.1263176

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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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