A Booklet for Families and Professionals
By Deborah L. Thibodeau, M.S. and Barry Wolf, M.D., Ph.
Diagnosis/testing. Individuals with profound biotinidase deficiency have less than 10% of mean normal serum biotinidase enzyme activity. Individuals with partial biotinidase deficiency have 10%-30% of mean normal serum biotinidase enzyme activity. Both profound and partial biotinidase deficiency are usually identified by newborn screening in states where such screening is offered.Molecular genetic testing of BTD, the only gene known to be associated with biotinidase deficiency, is clinically available.