WHAT IS PARTIAL BIOTINIDASE DEFICIENCY?
Biotinidase deficiency can appear in a milder form called partial
biotinidase deficiency. In partial biotinidase deficiency, the
activity of biotinidase is about 10-30% of normal compared to less
than 10% in the profound or more serious form of this condition.
Thus far, all of the children who have been classified as having
partial biotinidase deficiency have been identified through newborn
screening programs. Untreated children with partial deficiency are
usually healthy, although symptoms have occurred in some children
when they are stressed from an infection or poor diet. Currently,
most children with this partial biotinidase deficiency are being
treated with prescribed doses of biotin, usually slightly less (2 to
5 mg/day) than that used to treat profound deficiency, whereas
others remain untreated and are carefully watched for the
development of symptoms. The full clinical significance of partial
deficiency is still not known with certainty.
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
