如何诊断生物素酰胺酶缺乏症?

查阅诊断生物素酰胺酶缺乏症的方法。应该挂号什么专科,需要进行什么测试,以及生物素酰胺酶缺乏症诊断的相关信息

原本


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.

翻译