Glucokinase activating mutation causing hypoglycaemia diagnosed late in adult who fasts for Ramadhan
نویسندگان
چکیده
منابع مشابه
Familial adult onset hyperinsulinism due to an activating glucokinase mutation: implications for pharmacological glucokinase activation.
CONTEXT Glucokinase (GCK) phosphorylates and thereby "traps" glucose in cells, thus serving as a gatekeeper for cellular glucose metabolism, particularly in hepatocytes and pancreatic beta cells. In humans, activating GCK mutations cause familial hyperinsulinaemic hypoglycaemia (GCK-HH), leading to keen interest in the potential of small-molecule glucokinase activators (GKAs) as treatments for ...
متن کاملEvaluation of fasts for investigating hypoglycaemia or suspected metabolic disease.
AIM To assess the value and safety of fasts for investigating hypoglycaemia or suspected metabolic disease. STUDY DESIGN Review of all diagnostic fasts performed over a 2.5 year period. SETTING The neonatal intensive care unit and programmed investigation unit at a tertiary referral centre for endocrinology and metabolic disease. RESULTS 138 diagnostic fasts were performed during the stud...
متن کاملAsymptomatic Congenital Hyperinsulinism due to a Glucokinase-Activating Mutation, Treated as Adrenal Insufficiency for Twelve Years
Congenital hyperinsulinism (CHI) caused by a glucokinase- (GCK-) activating mutation shows autosomal dominant inheritance, and its severity ranges from mild to severe. A 43-year-old female with asymptomatic hypoglycemia (47 mg/dL) was diagnosed as partial adrenal insufficiency and the administration of hydrocortisone (10 mg/day) was initiated. Twelve years later, her 8-month-old grandchild was ...
متن کاملThe second activating glucokinase mutation (A456V): implications for glucose homeostasis and diabetes therapy.
In this study, a second case of hyperinsulinemic hypoglycemia due to activation of glucokinase is reported. The 14-year-old proband had a history of neonatal hypoglycemia, treated with diazoxide. He was admitted with coma and convulsions due to nonketotic hypoglycemia. His BMI was 34 kg/m(2), and his fasting blood glucose ranged from 2.1 to 2.7 mmol/l, associated with inappropriately high serum...
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ژورنال
عنوان ژورنال: Endocrinology, Diabetes & Metabolism Case Reports
سال: 2021
ISSN: 2052-0573
DOI: 10.1530/edm-21-0043