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Article

Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3.

American journal of human genetics - 1 Jul 2005

Zeng Wen-Qi, Al-Yamani Eiman, Acierno James S, Slaugenhaupt Susan, Gillis Tammy, MacDonald Marcy E, Ozand Pinar T, Gusella James F

Abstract excerpt

Biotin-responsive basal ganglia disease (BBGD) is a recessive disorder with childhood onset that presents as a subacute encephalopathy, with confusion, dysarthria, and dysphagia, and that progresses to severe cogwheel rigidity, dystonia, quadriparesis, and eventual death, if left untreated. BBGD symptoms disappear within a few days with the administration of high doses of biotin (5-10 mg/kg/d). On brain magnetic...

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Identifiers

PMID: 15871139
DOI: 10.1086/431216
PMCID: PMC1226189

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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