DOH Logo linking to the DOH Home Page

Newborn Screening Header
You are here: DOH Home  » EHSPHL Home » PHL Home » NBS Home »Partial Biotinidase Deficiency General Overview Page Search | Employees
 Site Directory:    Partial Biotinidase Deficiency General Overview Page

• Disorders

• Health Professionals' Page

• Parents' Page

• Reports & Publications

• Related Links

• NBS News

• NBS Privacy Policy

• Statistics

• Contact NBS

 

 

Access Washington Logo linking to Access Washington Home Page

 

 

 

 
What should I know about Biotinidase Deficiency?

Below are some frequently asked questions.  If the information contained on this page does not answer all of your questions or you would just simply like more information, please check out the Clinical Description & Related Links pages or contact us with your specific question.

(click here for printer friendly version of this information in pdf format)

Please see the viewer page for free software to enable viewing of pdf files.
Q. What is biotinidase deficiency?
A.  Biotinidase deficiency is a treatable disorder that affects the way the body recycles biotin, one of the B12 vitamins.  Because this system doesn’t work properly, the body has very low levels of biotin.  This vitamin is necessary for many functions in the body.  If left untreated, biotinidase deficiency can cause brain damage and other complications.
Q. Is there only one form of biotinidase deficiency?
A.  No.  Partial biotinidase deficiency is a less severe form. 
Q. How does the body normally process biotin?
A.  The body gets biotin from the food we eat and conserves it by recycling.  Biotin attaches to proteins during metabolism.  Biotinidase is the name of the enzyme that separates biotin from proteins and allows the body to reuse it. 
Q. What happens to biotin in a child with partial biotinidase deficiency?
A.  When there is not enough biotinidase enzyme or it does not work properly, biotin cannot be easily freed into the form that is used by the body.  This results in low levels of biotin.
Q. What are the effects of having partial biotinidase deficiency if it is not treated?
A.   A child with partial biotinidase deficiency may have some mild skin problems and hair loss.  These can be prevented by treatment.
Q. What is the treatment for partial biotinidase deficiency?
A.  The current recommendation is to treat partial biotinidase deficiency with daily supplements of biotin for six months.  After that, treatment can be discontinued as there should be enough biotin in their normal diet. 
Q. Why would a child have partial biotinidase deficiency?
A.   Partial biotinidase deficiency is an inherited disorder.  It results when a baby receives a biotinidase gene that does not work well from each parent.  For more information about this, contact your health care provider or a genetic counselor.
Q. How common is partial biotinidase deficiency?
A.  It is expected that about one in every 5,000 – 10,000 babies in Washington State will be born with partial biotinidase deficiency.
Documents posted in .pdf version on the Department of Health Web site will be made available in an alternative format on request to users who are unable to download or view .pdf files on the Web. To request an alternative format, contact: Gary Resler.

DOH Home | Access Washington | Privacy Notice | Disclaimer/Copyright Information

Washington State Department of Health
Newborn Screening Program
1610 NE 150th Street NE
Shoreline, Washington, 98155

Last Update : 11/20/2006 09:22 AM
Send inquires about DOH and its programs to the Health Consumer Assistance Office
Comments or questions regarding this web site? Send mail to Gary Resler.