ArticleJournal of community hospital internal medicine perspectives2016
Glucokinase mutation-a rare cause of recurrent hypoglycemia in adults: a case report and literature review.
Article in Journal of community hospital internal medicine perspectives, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 13 citations in OpenAlex.
- Genotype-histotype-phenotype correlations in hyperinsulinemic hypoglycemia.Histology and histopathology · 2024Review
- Genetic variants of ABCC8 and clinical manifestations in eight Chinese children with hyperinsulinemic hypoglycemia.BMC endocrine disorders · 2024Article
- Phenotypic Characterization of Congenital Hyperinsulinism Due to Novel Activating Glucokinase Mutations.Diabetes · 2023Article
- Clinical and enzymatic phenotypes in congenital hyperinsulinemic hypoglycemia due to glucokinase-activating mutations: A report of two cases and a brief overview of the literature.Journal of diabetes investigation · 2019Article
- Hyperinsulinaemic hypoglycaemia-an overview of a complex clinical condition.European journal of pediatrics · 2019Review
- The Genetic and Molecular Mechanisms of Congenital Hyperinsulinism.Frontiers in endocrinology · 2019Review
- Congenital Hyperinsulinism: Diagnosis and Treatment Update.Journal of clinical research in pediatric endocrinology · 2017Review
- Diagnosis and treatment of hyperinsulinaemic hypoglycaemia and its implications for paediatric endocrinology.International journal of pediatric endocrinology · 2017Review
- Clinical Profile and Efficacy of Long-Acting Octreotide in Hyperinsulinemic Hypoglycaemia.Indian journal of endocrinology and metabolismArticle
- 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.Acta endocrinologica (Bucharest, Romania : 2005)Article
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHypoglycemia occurs frequently in patients both in the inpatient and outpatient settings. While most hypoglycemia unrelated to diabetes treatment results from excessive endogenous insulin action, rare cases involve functional and congenital mutations in glycolytic enzymes of insulin regulation. CASE: A 21-year-old obese woman presented to the emergency department with complaints of repeated episodes of lethargy, syncope, dizziness, and sweating. She was referred from an outside facility on suspicion of insulinoma, with severe hypoglycemia unresponsive to repeated dextrose infusions. Her plasma glucose was 20 mg/dl at presentation, 44 mg/dl on arrival at our facility, and remained low in spite of multiple dextrose infusions. The patient had been treated for persistent hyperinsulinemic hypoglycemia of infancy at our neonatal facility and 4 years ago was diagnosed as having an activating glucokinase (GCK) mutation. She was then treated with octreotide and diazoxide with improvement in symptoms and blood glucose levels.
conclusionImproved diagnostication and management of uncommon genetic mutations as typified in this patient with an activating mutation of the GCK gene has expanded the spectrum of disease in adult medicine. This calls for improved patient information dissemination across different levels and aspects of the health care delivery system to ensure cost-effective and timely health care.
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