TWO OPPOSITE PHENOTYPES OF GLUCOSE DISORDERS IN A FAMILY WITH HETEROZYGOUS P.SER453LEU (C.1358C > T) MUTATION IN THE GLUCOKINASE (GCK) GENE: MATURITY ONSET DIABETES IN YOUNG AND INSULINOMA

Demiral M., Celebi H. B. G., CANDER S., Yerci O., EREN E., DEMİRBİLEK H.

ACTA ENDOCRINOLOGICA-BUCHAREST, vol.18, no.4, pp.458-465, 2022 (SCI-Expanded, Scopus) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 18 Issue: 4
  • Publication Date: 2022
  • Doi Number: 10.4183/aeb.2022.458
  • Journal Name: ACTA ENDOCRINOLOGICA-BUCHAREST
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, EMBASE
  • Page Numbers: pp.458-465
  • Keywords: GCK gene, MODY, insulinoma, hyperinsulinaemic hypoglycaemia, PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA, CONGENITAL HYPERINSULINISM, HETEROGENEITY, MANAGEMENT, DIAGNOSIS, CHILDREN
  • Bursa Uludag University Affiliated: Yes

Abstract

Background. Heterozygous gain-of-function mutations in the glucokinase (GCK) gene cause hyperinsulinaemic hypoglycaemia (GCK-HI), while loss-of-function mutations lead to a monogenic type of diabetes (GCK-MODY). We, herein, report a heterozygous GCK gene mutation in a large family with GCK-MODY and insulinoma in one individual from the same family.