Biotin-thiamine-responsive basal ganglia disease
| Biotin-thiamine-responsive basal ganglia disease (BTBGD) | |
|---|---|
| Other names | BTRBGD, Biotin-responsive basal ganglia disease (BBGD), Thiamine metabolism dysfunction syndrome 2 (biotin or thiamine-responsive type) (THMD2), Thiamine-responsive encephalopathy, Thiamine transporter-2 deficiency |
| Specialty | Neurometabolic disorders, neurology, internal medicine |
| Symptoms | Subacute encephalopathy; dystonia; spasticity; seizures; dysphagia; ataxia; dysarthria; etc. |
| Usual onset | Childhood (ages 3–10) |
| Duration | Lifelong |
| Causes | Family history (inherited) |
| Risk factors | Febrile illness; stress; trauma |
| Diagnostic method | Based on symptoms, family history, brain imaging, genetic testing |
| Management | |management= Prevention of symptoms, avoiding stressors, and routine surveillance |
| Medication | Administering biotin and thiamine; symptomatic treatments |
Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare disease that affects the nervous system, particularly the basal ganglia in the brain. It is a treatable neurometabolic disorder with autosomal recessive inheritance. First described in 1998 and then genetically distinguished in 2005, the disease is characterized by progressive brain damage that, if left untreated, can lead to coma and/or death. Commonly observed in individuals with BTBGD is recurring subacute encephalopathy along with confusion, seizures, and disordered movement (hypokinesia).
BTBGD has several alternate names, including:
- BTRBGD
- Biotin-responsive basal ganglia disease (BBGD)
- Thiamine metabolism dysfunction syndrome 2 (biotin or thiamine-responsive type) (THMD2)
- Thiamine-responsive encephalopathy
- Thiamine transporter-2 deficiency