Hyperinsulinism May Be Underreported in Hypoglycemic Patients with Phosphomannomutase 2 Deficiency

• Main Authors: Doğuş Vurallı (Author), Yılmaz Yıldız (Author), Alev Ozon (Author), Ali Dursun (Author), Nazlı Gönç (Author), Ayşegül Tokatlı (Author), H. Serap Sivri (Author), Ayfer Alikaşifoğlu (Author)
• Format: Book
• Published: Galenos Yayincilik, 2022-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

INTRODUCTION: Phosphomannomutase 2 deficiency (PMM2-CDG) is a disorder of protein N-glycosylation with a wide clinical spectrum. Hypoglycemia is rarely reported in PMM2-CDG. In this study, we evaluated cause, treatment options and outcomes in cases with hypoglycemia in the course of PMM2-CDG. METHOD...