Overview
Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare inherited brain disorder that affects a part of the brain called the basal ganglia, which helps control movement and coordination. It is also sometimes called thiamine metabolism dysfunction syndrome 2 (THMD2) or biotin-responsive basal ganglia disease. The condition is caused by changes (mutations) in the SLC19A3 gene, which makes a protein that helps transport thiamine (vitamin B1) into brain cells. Without enough thiamine getting into cells, the brain — especially the basal ganglia — can be damaged. Symptoms usually begin in childhood and can include episodes of confusion, seizures, muscle stiffness, difficulty moving, and problems with speech and swallowing. These episodes are often triggered by fever or illness. The good news is that this disease can respond remarkably well to treatment with high doses of biotin and thiamine (both B vitamins). When started early — especially before or right after a crisis — treatment can prevent serious brain damage and allow children to live much more normal lives. Without treatment, the disease can cause severe disability or even be life-threatening. Early diagnosis and prompt treatment are absolutely critical for the best outcomes.
Also known as:
Key symptoms:
Sudden episodes of confusion or altered consciousnessSeizuresMuscle stiffness or rigidityDifficulty walking or loss of ability to walkSlurred or lost speechDifficulty swallowingWeakness on one or both sides of the bodyInvoluntary muscle movements or spasmsDevelopmental delay or regression (losing skills already learned)Drooping eyelids or eye movement problemsVomiting during illness episodesIntellectual disability in untreated or late-treated casesFatigue and low energy
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Biotin-thiamine-responsive basal ganglia disease.
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Biotin-thiamine-responsive basal ganglia disease.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What dose of biotin and thiamine does my child need, and how should we adjust it as they grow?,What should we do if my child gets a fever or serious infection — do we need to go to the emergency room right away?,Should we test siblings or other family members for this condition?,How often should my child have brain MRI scans to monitor for changes?,Are there any signs of neurological damage we should watch for at home?,What therapies (physical, speech, occupational) does my child need, and how often?,Is there a patient registry or research study we can join to help advance understanding of this disease?
Common questions about Biotin-thiamine-responsive basal ganglia disease
What is Biotin-thiamine-responsive basal ganglia disease?
Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare inherited brain disorder that affects a part of the brain called the basal ganglia, which helps control movement and coordination. It is also sometimes called thiamine metabolism dysfunction syndrome 2 (THMD2) or biotin-responsive basal ganglia disease. The condition is caused by changes (mutations) in the SLC19A3 gene, which makes a protein that helps transport thiamine (vitamin B1) into brain cells. Without enough thiamine getting into cells, the brain — especially the basal ganglia — can be damaged. Symptoms usually begin i
How is Biotin-thiamine-responsive basal ganglia disease inherited?
Biotin-thiamine-responsive basal ganglia disease follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Biotin-thiamine-responsive basal ganglia disease typically begin?
Typical onset of Biotin-thiamine-responsive basal ganglia disease is childhood. Age of onset can vary across affected individuals.
Which specialists treat Biotin-thiamine-responsive basal ganglia disease?
15 specialists and care centers treating Biotin-thiamine-responsive basal ganglia disease are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.