biotin-responsive basal ganglia disease
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Genetics
- autosomal recessive
- associated with defects in SLC19A3 gene
- c.1264A->G (p.Thr422Ala)[2]
Clinical manifestations
- childhood onset
- presents as subacute encephalopathy, with confusion, dysarthria, & dysphagia
- seizures, progressive dystonia[2]
- progresses to severe rigidity, dystonia, quadriparesis & death if not treated
Management
References
- ↑ OMIM https://mirror.omim.org/entry/607483
- ↑ 2.0 2.1 2.2 2.3 Eichler FS, Swoboda KJ, Hunt AL, Cestari DM, Rapalino O. Case 38-2017 - A 20-Year-Old Woman with Seizures and Progressive Dystonia. N Engl J Med 2017; 377:2376-2385. December 14, 2017 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/29236641 <Internet> http://www.nejm.org/doi/full/10.1056/NEJMcpc1706109