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To assess the role of γ-Glutamyltransferase (GGT) and alkaline phosphatase (ALP) in the diagnosis of Gaucher disease (GD) and monitoring the response of liver and bone to the treatment with enzyme replacement therapy (ERT). A case-control study was done on 67 children age range from 3-10 years who had Gaucher disease recruited from the Pediatric Department and Unit of rare disease at Al Imamain Al-Kathemeaain medical city, Gastroenterology and Hepatology Teaching Hospital, Children Welfare Hospital Consultation Clinic and Central Child’s TeachingHospital. The activity of Alkaline Phosphatase (ALP) and γGlutamyl Transferase (GGT) enzymes weremeasured in the samples of 67 Gaucher patients whowere categorized as newly diagnosed untreated patients (n=9), patients receiving ERT for 3-5 months (n=18) 6-12 months (n=20) and patients receiving ERT formore than one year (n=20) and compared with twenty age-matched control subjects. The data indicated that the levels of both ALP and GGT in GD patients (216.82± 64.51, 35.94± 7.11; respectively)were signi icantly higher than those of controls (163.17± 49.34, 28.33± 3.36; respectively). Levels of ALP showed to return to levels comparable to those of controls after more than one year of treatment, while GGT levels become comparable to controls’ levels within 6-12 months. Negative signi icant (p<0.05) correlationswere obtained between the levels of ALP and GGT activities with the duration of receiving ERT. Receiver Operating Characteristic (ROC) curve results revealed that GGT showed a higher area under the curve (AUC), sensitivity, and speci icity than ALP activities in all studied groups and subgroups. The possibility of using ALP and GGT as supportive diagnostic markers and as powerful markers for the monitoring of the liver and bone improvement with the administration of ERT

international journal of research in pharmaceutical sciences

The role of alkaline phosphatase (alp) and γ-glutamyltransferase (ggt) enzymes activities in monitoring the effect of enzyme replacement therapy in children with gaucher disease