H01231 | |
H number | H01231 |
Name | Biotin-responsive basal ganglia disease |
Description | Biotin-responsive basal ganglia disease (BBGD) is a rare autosomal recessive disorder. The disease has its onset in childhood, and is characterized by episodic encephalopathy presenting as confusion, seizures, external ophthalmoplegia, dysphagia, and sometimes coma and death. BBGD symptoms disappear within a few days with the administration of high doses of biotin (5-10 mg/kg/d). It has been reported that BBGD is due to mutations in the transporter gene SLC19A3. |
Category | Inherited metabolic disorder |
Network | - |
Gene | SLC19A3 [HSA:80704] [KO:K14610] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 5C63.Y MeSH: C537658 OMIM: 607483 |
Reference | PMID:15871139 AUTHORS Zeng WQ, Al-Yamani E, Acierno JS Jr, Slaugenhaupt S, Gillis T, MacDonald ME, Ozand PT, Gusella JF TITLE Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. JOURNAL Am J Hum Genet 77:16-26 (2005) DOI:10.1086/431216 |