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

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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?

The following information may help to address your question:


Will the treatment for biotin-thiamine-responsive basal ganglia disease (BTRBGD) fail to work at a future time?

We were not able to find any published reports through PubMed, the database of published medical literature, textbooks, or medical websites which indicated the treatment of biotin and thiamine would stop working for a person with biotin-thiamine-responsive basal ganglia disease (BTRBGD).

The only information, which was consistently noted, is that the treatment in order to be effective must be begun early and must be continued throughout the child's lifetime.[1][2]
Last updated: 1/31/2016

Will symptoms of biotin-thiamine-responsive basal ganglia disease (BTRBGD) develop in a child who is responding well to treatment?

We were not able to find any reports which suggested children with biotin-thiamine-responsive basal ganglia disease (BTRBGD) who are responding well to treatment will develop any symptoms in the future. The papers we found in fact reported that children who were diagnosed early in the course of the condition and were treated with both biotin and thiamine remained without symptoms.[1][2][3][4]

We however were not able to find long term papers which reported following a child with BTRBGD being treated with thiamine and biotin throughout the course of their life, but that is because both the condition and combined treatment are relatively new. One study did follow an affected child for 8 years from ages 15 to 23 years old and found that the young person's symptoms decreased after beginning the treatment and then stabilized.[5]

We were not able to find any reports of children, who were followed after being diagnosed either prenatally or pre-symptomatically. However this is likely because the ability to do so is relatively new. Since early diagnosis and treatment after only a single episode has resulted in very favorable outcomes, one would surmise a child who had no episodes and remained on treatment throughout her life, would have a very favorable outcome as well.
Last updated: 1/31/2016

We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please contact us.

Warm regards,
GARD Information Specialist

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  1. 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.
  2. 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.
  3. Schänzer A, Döring B, Ondrouschek M, Goos S, Garvalov BK, Geyer J, Acker T, Neubauer B, and Hahn A. Stress-induced upregulation of SLC19A3 is impaired in biotin-thiamine-responsive basal ganglia disease. Brain Pathol. April 2014; 24(3):270-279. http://www.ncbi.nlm.nih.gov/pubmed/24372704.
  4. Kassem H, Wafaie A, Alsuhibani S, and Farid T. Biotin- responsive basal ganglia disease: neuroimaging features before and after treatment. AJNR Am J Neuroradiol. October 2014; 35(10):1990-1995. http://www.ncbi.nlm.nih.gov/pubmed/24812013.
  5. Ortigoza-Escobar JD, Serrano M, Molero M., Oyarzabal A, Rebollo, M, Muchart J, Artuch R, Rodriguiz-Pombo P, and Perez-Duenas B. Thiamine transporter-2 deficiency: outcome and treatment monitoring. Orphanet Journal of Rare Diseases. June 23, 2014; 9:92. http://www.ojrd.com/content/9/1/92.