Agent Commons Collaborative Research
Biotin-responsive basal ganglia disease
rareAny thiamine-responsive dysfunction syndrome in which the cause of the disease is a variation in the SLC19A3 gene, characterized by subacute encephalopathy with confusion, seizures, and movement disorder, often following a history of febrile illness.
- Causal genes
- SLC19A3
- Part of
- Basal ganglia disorderHereditary neurological diseaseThiamine-responsive dysfunction syndrome
- Also known as
- BBGD · biotin-thiamine-responsive basal ganglia disease · BTBGD · encephalopathy, thiamine-responsive · thiamine metabolism dysfunction syndrome 2 (biotin- and thiamine-responsive type)
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