See how Biotinidase Deficiency is diagnosed. Which specialists are essential to meet, what tests are needed and other useful information for the diagnosis of Biotinidase Deficiency
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.