biotin-responsive basal ganglia disease

An 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.
Molecular pathology
Defects of SLC19A3, which encodes a high-affinity thiamine transporter, cause biotin-responsive basal ganglia disease.

单词	biotin-responsive basal ganglia disease
释义	biotin-responsive basal ganglia disease biotin-responsive basal ganglia disease An 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. Molecular pathology Defects of SLC19A3, which encodes a high-affinity thiamine transporter, cause biotin-responsive basal ganglia disease.
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