Biotin-responsive basal ganglia disease

MONDO:0011841

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.

Also known as: BBGD, BTBGD, THMD2, biotin-responsive basal ganglia disease, biotin-thiamine-responsive basal ganglia disease, encephalopathy, thiamine-responsive, thiamine metabolism dysfunction syndrome 2 (biotin- and thiamine-responsive type), thiamine-responsive encephalopathy

1 clinical trial for this condition and its sub-types, 1 tagged with Biotin-responsive basal ganglia disease itself.

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Where it sits in the disease tree

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↑ Hereditary neurological disease (5772) ↑ Basal ganglia disorder (1318) ↑ Thiamine-responsive dysfunction syndrome (7)

Including sub-types (1) Tagged with Biotin-responsive basal ganglia disease (1)

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Newborn screening study aims to catch rare diseases at birth

Diagnosis Ongoing

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

Sponsor: RTI International • Aim: Diagnosis

Last updated Jul 03, 2026 00:00 UTC

Biotin-responsive basal ganglia disease

Where it sits in the disease tree

Newborn screening study aims to catch rare diseases at birth