Come si diagnostica il Deficit di Biotinidasi?

Most US states now require the biotinidase enzyme activity to be part of the newborn screening done after birth in the hospital.
If that screen shows abnormal results a follow up blood draw at any standard phlebotomy lab can be done.
The blood draw will check the activity level of your biotinidase enzyme.
A geneticist will be essential in the treatment of this deficiency as it is a genetic disorder.