BIOTINIDASE DEFICIENCY
A Booklet for Families & Professionals

INTRODUCTION

For Families
You may have taken home a healthy newborn baby from the hospital, and now the doctors are telling you that there is something wrong. You may feel shocked, sad, frightened, or angry. You may ask, "How could this be?"

Or maybe you have an older child. You have known for some time that something is not quite right. Just now, doctors have diagnosed your child's condition. You may feel relieved that a diagnosis has finally been made, but afraid of what the diagnosis means.

Regardless of your child's age at the time of the diagnosis, being told that your child has biotinidase deficiency was probably confusing and scary because you had never heard of this condition before. You probably wondered what this diagnosis would mean for your child and your family.

Your doctor or a genetic counselor has explained to you that biotinidase deficiency is a treatable genetic condition. You have been given a lot of new information at a time when your mind has been preoccupied with the health of your child. You may still have many questions about your child's health.

This booklet has been written to answer many of the questions that families have concerning biotinidase deficiency. We hope that it will serve as a resource for you and others who wish to learn more about your child's condition. We have included listings of resources and references to which you can turn for more information or assistance. Finally, we hope that this booklet will help you realize that you are not alone in raising a child with biotinidase deficiency.

For Professionals
Although this book was prepared for families, it was also written to introduce medical professionals to biotinidase deficiency. A list of references is provided should you desire more detailed information from the medical literature.

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