Research

BIOTINIDASE DEFICIENCY
A Booklet for Families & Professionals

By Deborah L. Thibodeau, M.S.¹ and Barry Wolf, MD., Ph.D.¹ ²

¹Department of Pediatrics
Division of Genetics
University of Connecticut School of Medicine
Farmington, CT 06032
²Division of Research
Connecticut Children's Medical Center 
282 Washington Street
Hartford, CT 06106

Telephone: (860) 545.9944 
Fax: (804) 545.9159 
E-mail: bwolf@ccmckids.org

Table of Contents

Introduction 
What is Biotinidase Deficiency?
How will Biotinidase Deficiency Affect my Child's Health? 
What is Partial Biotinidase Deficiency? 
How is Biotinidase Deficiency Treated? 
How is Biotinidase Deficiency Detected? 
How Common is Biotinidase Deficiency? 
What Causes Biotinidase Deficiency? 
How is Biotinidase Deficiency Inherited? 
What can I Expect from my Child? 
What New Research is Being Done? 
Where Can We Get Help? 
References 
Points to Remember

Download printable version of Biotinidase Deficiency Booklet (287k pdf)



This site is an updated version of the booklet by D. Thibodeau and B. Wolf.
 Biotinidase Deficiency: A Booklet for Families and Professionals 1993. 
Last Updated: 02.01.02