biotin-responsive basal ganglia disease(redirected from thiamine metabolism dysfunction syndrome type 2)
biotin-responsive basal ganglia diseaseAn autosomal recessive metabolic disorder (OMIM:607483) of childhood onset characterised by episodic encephalopathy, often triggered by febrile illness, presenting as confusion, seizures, external ophthalmoplegia, dysarthria and dysphagia, which, if not treated early with biotin, progresses to severe rigidity, dystonia, paraplegia and death.
Defects of SLC19A3, which encodes a high-affinity thiamine transporter, cause biotin-responsive basal ganglia disease.
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