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Biotinidase Deficiency Family Support Group
a/k/a: BDFSG
Address
Henry Ford Hospital
2799 West grand Blvd., CFP-4
Detroit, MI 48202
Phone
770-486-7283
Email Address
Laurie.Farmer@fda.hhs.gov
Chapters
1
Website
http://www.biotinidasedeficiency.20m.com/
The Biotinidase Deficiency Family Support Group (BDFSG) is a non-profit, volunteer organization whose website is devoted to supporting those affected by biotinidase deficiency. Biotinidase deficiency (multiple carboxylase deficiency) is a treatable, metabolic disorder that is the result of a low concentration, or complete lack, of the enzyme, biotinidase. Biotinidase deficiency is an inherited disorder in which the body is not able to properly process the vitamin, biotin, which is sometimes referred to as Vitamin H. Biotin is an essential vitamin to the metabolic process and biotinidase, among its other functions, allows biotin to become available for use by the body. Babies may be born without signs of biotinidase deficiency, but the symptoms become apparent after the first few weeks or months of life. Chief characteristics include weak muscles (hypotonia), seizures, hair loss (alopecia), an inflammatory skin rash (eczema), developmental delays, and lactic aciduria. Biotinidase Deficiency Family Support Group's mission is to establish a forum to exchange information about biotinidase deficiency among affected individuals and with medical professionals. Furthermore, they advocate for the inclusion of biotinidase testing in all newborn-screening programs.
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