Activity values of the enzyme phosphomanomutase 2 for diagnosing the CDG Ia glycosylation defect

[…] Our aim was to determine PMM2 activity levels using a microspectrophotometric method. We collected 50 whole blood samples from healthy volunteer donors, including 24 females and 26 males aged 1.94-26. Leukocytes were extracted using the dextran-heparin method and then lysed. Moreover, protein was quantified via the Folin-Lowry method. We used the Van Schaftingen and Jaeken method, which we modified and standardized. The study established a reference value of 6.546-48.023 nmol/h*mg protein for PMM2.