Biotin-Thiamine-Responsive Basal Ganglia Disease (BBGD)

Alias:

Biotin-Responsive Basal Ganglia Disease

Btbgd

Bbgd

Thiamine-Responsive Encephalopathy

Thiamine Transporter-2 Deficiency

Thiamine Metabolism Dysfunction Syndrome 2

Thiamine Metabolism Dysfunction Syndrome-2

Basal Ganglia Disease, Biotin-Responsive

Thmd2

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Biotin-Thiamine-Responsive Basal Ganglia Disease, also known as biotin-responsive basal ganglia disease, is related to basal ganglia disease and thiamine metabolism dysfunction syndrome 2, and has symptoms including muscle rigidity, seizures and paraparesis. An important gene associated with Biotin-Thiamine-Responsive Basal Ganglia Disease is SLC19A3 (Solute Carrier Family 19 Member 3). Affiliated tissues include brain and eye.

Related ID：

MALACARDS：BTN005