Open AccessFamilial case of congenital hyperinsulinism associated with mutation in the GLUD1 gene
Author(s) -
Maria Melikyan,
Меликян Мария Арменаковна,
Anatoly Tiulpakov,
Тюльпаков Анатолий Николаевич,
Maria Kareva,
Карева Мария Андреевна
Publication year - 2017
Publication title -
problemy èndokrinologii
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.124
H-Index - 5
eISSN - 2308-1430
pISSN - 0375-9660
DOI - 10.14341/probl2017633195-200
Subject(s) - hyperinsulinism , medicine , hyperinsulinemic hypoglycemia , hypoglycemia , congenital hyperinsulinism , pediatrics , mutation , hyperammonemia , genetic testing , endocrinology , diabetes mellitus , gene , genetics , biology , insulin resistance
Congenital hyperinsulinism (CHI) is a rare hereditary disease characterized by hypoglycemia in children during the first year of life. Late diagnosis and inadequate therapy may result in severe neurological complications. Mutations in the GLUD1 gene that encodes glutamate dehydrogenase are one of the causes of CHI. This form of CHI is characterized by protein-induced hyperinsulinemic hypoglycemia and hyperammonemia in patients. Diagnosing can be challenging because hyperinsulinemic hypoglycemia cannot be detected using the conventional fasting glucose test. Extensive examination including the protein load test is needed to refine diagnosis. We report a familial case where the mother and two daughters were diagnosed with CHI and had a mutation in the catalytic domain of the GLUD1 gene. The clinical presentation, the laboratory data, the outcome of therapy, and the dynamic follow up data for the patients are presented.