biotin-responsive basal ganglia disease

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biotin-responsive basal ganglia disease2016-11-24T21:43:30+00:00

biotin-responsive basal ganglia disease  

NEUROLOGY

Definition 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 progresses to severe rigidity, dystonia, paraplegia and death, if not treated early with biotin.

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

Synonyms Encephalopathy—thiamine-responsive, thiamine metabolism dysfunction syndrome type 2 (biotin- or thiamine-responsive type)

References http://www.uniprot.org/uniprot/Q9BZV2

http://www.omim.org/entry/607483

 

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