biotin-responsive basal ganglia disease

Any 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.

What is biotin-responsive basal ganglia disease?

biotin-responsive basal ganglia disease is a medical condition. A condition is a disease, disorder, or abnormal state that affects the body or mind. This page provides educational information only and is not a diagnosis.

If you think you may have biotin-responsive basal ganglia disease, speak with a qualified healthcare provider for evaluation and guidance.

Symptoms that may be associated with biotin-responsive basal ganglia disease

Action tremorConfusionDysphagiaExternal ophthalmoplegiaFacial palsyFeverSeizureVomiting

When to seek medical care

Seek medical advice if you have symptoms that are severe, persistent, or affecting your daily life. Emergency care is needed for symptoms like chest pain, difficulty breathing, confusion, or severe weakness.