Hyperinsulinism May Be Underreported in Hypoglycemic Patients with Phosphomannomutase 2 Deficiency
Dogus VuralliYilmaz YildizZeynep Alev OzonAli DursunElmas Nazlı GonçAyşegül TokatlıHatice Serap SivriMehmet AlikasifogluPublished in: Journal of clinical research in pediatric endocrinology (2022)
The main cause of hypoglycemia in PMM2-CDG appears to be hyperinsulinism. Although insulin levels at the time of hypoglycemia may not be very high, hypoglycemia in patients with PMM2 responds well to diazoxide.