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Article

SLC19A3 Gene Defects Sorting the Phenotype and Acronyms: Review.

Neuropediatrics - 1 Apr 2018

Alfadhel Majid, Tabarki Brahim

Abstract excerpt

Thiamine metabolism dysfunction syndrome type 2 is also known by other terms including: "SCL19A3 gene defect," "biotin-responsive basal ganglia disease" (BBGD), and "biotin-thiamine-responsive basal ganglia disease" (BTBGD). The worldwide incidence and prevalence of this disorder are unknown, but the syndrome has primarily been reported in Saudi Arabia (52% of reported cases). It is caused by a defect in thiamine...

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Identifiers

PMID: 28962040
DOI: 10.1055/s-0037-1607191

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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