KEGG   DISEASE: Biotin-responsive basal ganglia diseaseHelp
Entry
H01231                      Disease                                

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 disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Other congenital disorders of metabolism
   H01231  Biotin-responsive basal ganglia disease
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Disorders of metabolite absorption or transport
    5C63  Disorders of vitamin or non-protein cofactor absorption or transport
     H01231  Biotin-responsive basal ganglia disease
BRITE hierarchy
Pathway
hsa04977 Vitamin digestion and absorption   
Gene
SLC19A3 [HSA:80704] [KO:K14610]
Other DBs
ICD-11: 5C63.Y
MeSH: C537658
OMIM: 607483
Reference
  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

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