Hier können Sie sehen, wie Biotinidase-Mangel diagnostiziert wird. Welchen Experten Sie aufsuchen müssen, welche Tests nötig sind und andere nützliche Informationen, um Biotinidase-Mangel festzustellen
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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.