Biotin-thiamine-responsive basal ganglia disease

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.

Last updated on 05-01-20

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.

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.

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 on 05-01-20

Name: Metabolic Support UK 5 Hilliards Court Sandpiper Way
Chester Business Park
Chester, CH4 9QP, United Kingdom
Phone: 0845 241 2173 Toll Free: 0800 652 3181 Email: Url:
Name: Dystonia Medical Research Foundation 1 East Wacker Drive Suite 1730
Chicago, IL, 60601-1905, United States
Phone: +1-312-755-0198 Toll Free: 1-0800-377-3978 Fax : +1-312-803-0138 Email: Url:

Connect with other users with Biotin-thiamine-responsive basal ganglia disease on the RareGuru app

Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!

The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

People Using the App

Join the RareGuru Community

To connect, share, empower and heal today.

People Using the App