WHAT NEW RESEARCH IS BEING DONE?
Biotinidase deficiency was first described in 1983. Since then,
doctors and scientists have learned much about this genetic
condition. But there are still many unanswered questions. For
example, why does reduced biotinidase activity lead to hair loss,
hearing problems, and seizures? Is there any way to completely
correct all health problems caused by biotinidase deficiency if the
diagnosis is made late? Is biotin therapy the best treatment? Is the
biocytin that is produced in individuals with biotinidase deficiency
harmful? Does biotin therapy cause increased amounts of biocytin to
be made? Now that we can determine the specific mutation in the
biotinidase gene that causes biotinidase deficiency, are there
certain mutations that are more likely result in producing symptoms
in untreated individuals than others? Researchers are currently
trying to answer these and other questions so that your child can
receive the most effective treatment possible and so that we can
provide you with complete and accurate information.
Recently, the gene for human biotinidase has been isolated and
characterized. The biotinidase gene has been shown to be located on
the tip of the short arm of chromosome 3. Our laboratory has found
over forty different mutations that cause biotinidase deficiency. It
is possible to determine the mutation(s) in your child's DNA that
caused biotinidase deficiency. Our laboratory is conducting mutation
analysis on DNA from children with profound and partial biotinidase
deficiency from around the world.
We are in the process of determining the mutations in the DNA
that cause profound and partial biotinidase deficiency in children
who were symptomatic at the time of diagnosis or who were found to
have the deficiency by newborn screening. We would now like to
determine the mutation or mutations that causes biotinidase
deficiency in your child. This will allow us to compare the
mutations in symptomatic children and compare them to the mutations
of children identified by newborn screening. This may help us
determine if there are differences in the groups and if it is of
clinical importance. To do this study we must obtain blood samples
from the child with biotinidase deficiency and, if possible from
both parents. This testing is experimental at this time.
The blood can be drawn by the physician who forwarded this letter
to you or by making arrangements with your primary care physician.
We can discuss with them or mail them the consent form for
participating in the study and instructions for obtaining the
samples.
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
