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biotin-responsive basal ganglia disease

Sunday 8 May 2005

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 resonance imaging examination, patients display central bilateral necrosis in the head of the caudate, with complete or partial involvement of the putamen.

Etiology

- missense mutations in gene SLC19A3 coding for a transporter related to the reduced-folate transporter (encoded by SLC19A1) and thiamin transporter (encoded by SLC19A2) (15871139)