- What is biotinidase deficiency and what causes it?
- What are the symptoms of biotinidase deficiency?
- How is it diagnosed?
- What is the prognosis?
- What is the risk for other family members or future babies?
- What treatments/therapies/medications are recommended or available?
- How will my child and our family be impacted?
- What is the difference between biotin and biotinidase?
- I don't like my child taking medicines, why can't I just serve food that is high in biotin?
Biotinidase Deficiency Family Support Group
Support group site with information, links, and a "Family Center" with an email forum, chance to meet other families, and read stories.
Biotinidase Deficiency (Genetics Home Reference)
Excellent, detailed review of condition for patients and families; U.S. National Library of Medicine.
Resources for Biotinidase Deficiency (Disease InfoSearch)
Compilation of information, articles, research, case studies, and genetics links; from Genetic Alliance.
Biotinidase Deficiency (GeneReviews)
An expert-authored, peer-reviewed, current disease description that applies genetic testing to diagnosis and management information for the condition; National Center for Biotechnology Information, U.S. National Library of Medicine.
Baby's First Test (Genetic Alliance)
A clearinghouse for newborn screening information. Provides resources about screening at the local, state, and national levels and ways for people to share their viewpoints and questions about newborn screening.
We currently have no Newborn Screening Programs service providers listed; search our Services database for related services.
We currently have no Pediatric Genetics service providers listed; search our Services database for related services.
See all Pediatric Metabolic Genetics services providers (1) in our database.
For other services related to this condition, browse our Services categories or search our database.
|Compiled and edited by:||Lynne M Kerr, MD, PhD - 10/2012|
|Content Last Updated:||11/2015|
Clinical issues and frequent questions about biotinidase deficiency.
Mol Genet Metab. 2010;100(1):6-13. PubMed abstract