Where can I find more information about biotinidase deficiency?
Connecting with other families who are caring for individuals with biotinidase deficiency can be a helpful source of information and support for individuals with or caretakers of individuals diagnosed with biotinidase deficiency. The Biotinidase Deficiency Family Support Group is a non-profit volunteer organization. It's mission as listed on the website is "to establish a forum to exchange information about biotinidase deficiency among affected individuals and with medical professionals and to advocate for the inclusion of biotinidase testing in all newborn screening programs."
More information about biotinidase deficiency can be obtained from the following sources:
- National Organization for Rare Disorders (NORD) - http://rarediseases.org/rare-diseases/biotinidase-deficiency/
- CLIMB (Children Living with Inherited Metabolic Disorders) - http://www.CLIMB.org.uk
- Genetic and Rare Diseases (GARD) Information Center - http://rarediseases.info.nih.gov/GARD/
- Baby's First Test - http://www.babysfirsttest.org/newborn-screening/conditions/biotinidase-deficiency
- Genetics Home Reference - https://ghr.nlm.nih.gov/condition/biotinidase-deficiency
- Genereviews - https://www.ncbi.nlm.nih.gov/books/NBK1322/