National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Biotin-thiamine-responsive basal ganglia disease


Other Names:
Biotin-responsive basal ganglia disease; BBGD
Categories:
Biotin-thiamine-responsive basal ganglia disease is a rare condition that affects the brain and other parts of the nervous system. The severity of the condition and the associated signs and symptoms vary from person to person, even within the same family. Without early diagnosis and treatment, most affected people develop features of the condition between ages 3 and 10 years. Signs and symptoms may include recurrent episodes of confusion, seizures, ataxia (problems coordinating movements), dystonia, facial palsy (weakness of the facial muscles), external ophthalmoplegia (paralysis of the muscles surrounding the eye), and dysphagia. Eventually, these episodes can lead to coma or even death. Biotin-thiamine-responsive basal ganglia disease is caused by changes (mutations) in the SLC19A3 gene and is inherited in an autosomal recessive manner.[1][2] As its name suggests, early and lifelong treatment with the vitamins biotin and thiamine may improve the symptoms.[2][3]
Last updated: 1/15/2016

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 27 |
Medical Terms Other Names
Learn More:
HPO ID
5%-29% of people have these symptoms
Global developmental delay 0001263
1%-4% of people have these symptoms
Psychomotor retardation 0025356
Percent of people who have these symptoms is not available through HPO
Abnormality of the basal ganglia 0002134
Autosomal recessive inheritance 0000007
Babinski sign 0003487
Coma 0001259
Confusion
Disorientation
Easily confused
Mental disorientation
[ more ] 		0001289
Craniofacial dystonia
Abnormal craniofacial muscle tone
0012179
Dysarthria
Difficulty articulating speech
0001260
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] 		0002015
Dystonia 0001332
Encephalopathy 0001298
External ophthalmoplegia
Paralysis or weakness of muscles within or surrounding outer part of eye
0000544
Fever 0001945
Gait ataxia
Inability to coordinate movements when walking
0002066
Hypertonia 0001276
Inability to walk 0002540
Irritability
Irritable
0000737
Juvenile onset
Signs and symptoms begin before 15 years of age
0003621
Morphological abnormality of the pyramidal tract 0002062
Muscular hypotonia of the trunk
Low muscle tone in trunk
0008936
Mutism
Inability to speak
Muteness
[ more ] 		0002300
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Paraparesis
Partial paralysis of legs
0002385
Ptosis
Drooping upper eyelid
0000508
Rigidity
Muscle rigidity
0002063
Seizure 0001250
Showing of 27 |
Last updated: 7/1/2020

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Biotin-thiamine-responsive basal ganglia disease. This website is maintained by the National Library of Medicine.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Biotin-thiamine-responsive basal ganglia disease. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • I have a two and a half year old daughter diagnosed with biotin thiamine responsive basal ganglia disease one week before she was born. Her older sister had the disease but she died from a viral infection before she was diagnosed. My younger daughter is responding to the treatment of high dosage of biotin and thiamine, and she looks great. Is there any risk that she will not respond to this treatment one day in the future? Is there a possibility she will develop symptoms as seizures and weakness in her muscles as she grows or not necessarily? See answer


  1. Biotin-thiamine-responsive basal ganglia disease. Genetics Home Reference. January 2014; http://ghr.nlm.nih.gov/condition/biotin-thiamine-responsive-basal-ganglia-disease.
  2. Brahim Tabarki, MD, Amal Al-Hashem, MD, and Majid Alfadhel, MD, MHSc, FCCMG. Biotin-Thiamine-Responsive Basal Ganglia Disease. GeneReviews. November 2013; http://www.ncbi.nlm.nih.gov/books/NBK169615/#bgd-biotin.Clinical_Description.
  3. Alfadhel M, Almuntashri M, Jadah RH, Bashiri FA, Al Rifai MT, Al Shalaan H, Al Balwi M, Al Rumayan A, Eyaid W, Al-Twaijri W. Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases. Orphanet J Rare Dis. June 2013; 8:83.