ArticleThe Journal of clinical endocrinology and metabolism2017
Novel Hypoglycemia Phenotype in Congenital Hyperinsulinism Due to Dominant Mutations of Uncoupling Protein 2.
Article in The Journal of clinical endocrinology and metabolism, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 29 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
29 citing papers in PubMed, 42 citations in OpenAlex.
- [Clinical practice guidelines "Congenital hyperinsulinism"].Problemy endokrinologii · 2026Review
- Real-world insights into neurodevelopmental outcomes amongst people with congenital hyperinsulinism.Orphanet journal of rare diseases · 2026Article
- Functional evaluation of pancreatic islets from patients with Beckwith-Wiedemann syndrome and congenital hyperinsulinism.The Journal of clinical endocrinology and metabolism · 2026Article
- From standard to individualized diazoxide therapy in congenital hyperinsulinism: a narrative review.Frontiers in pharmacology · 2026Review
- Congenital Hyperinsulinism India Association: An Approach to Address the Challenges and Opportunities of a Rare Disease.Medical sciences (Basel, Switzerland) · 2025Review
- The Role of Mitochondrial Solute Carriers SLC25 in Cancer Metabolic Reprogramming: Current Insights and Future Perspectives.International journal of molecular sciences · 2024Review
- Genetic Variations in Hyperinsulinemic Hypoglycemia: Active versus Inactive Mutations.Diabetes, metabolic syndrome and obesity : targets and therapy · 2024Review
- Role of Mitochondrial Transporters on Metabolic Rewiring of Pancreatic Adenocarcinoma: A Comprehensive Review.Cancers · 2023Review
- Localized islet nuclear enlargement hyperinsulinism (LINE-HI) due to ABCC8 and GCK mosaic mutations.European journal of endocrinology · 2022Article
- Glutamine-Derived Aspartate Biosynthesis in Cancer Cells: Role of Mitochondrial Transporters and New Therapeutic Perspectives.Cancers · 2022Review
- Mosaic GLUD1 Mutations Associated with Hyperinsulinism Hyperammonemia Syndrome.Hormone research in paediatrics · 2022Article
- Hyperinsulinemic hypoglycemia in children and adolescents: Recent advances in understanding of pathophysiology and management.Reviews in endocrine & metabolic disorders · 2020Review
- Diagnosis of congenital Hyperinsulinism can occur not only in infancy but also in later age: a new flow chart from a single center experience.Italian journal of pediatrics · 2020Article
- Review
- Diseases Caused by Mutations in Mitochondrial Carrier GenesBiomolecules · 2020Review
- Congenital hyperinsulinism disorders: Genetic and clinical characteristics.American journal of medical genetics. Part C, Seminars in medical genetics · 2019Review
- Novel dominant KAmerican journal of medical genetics. Part A · 2019Article
- Mitochondrial Carriers for Aspartate, Glutamate and Other Amino Acids: A Review.International journal of molecular sciences · 2019Review
- Current and Emerging Agents for the Treatment of Hypoglycemia in Patients with Congenital Hyperinsulinism.Paediatric drugs · 2019Review
- The Genetic and Molecular Mechanisms of Congenital Hyperinsulinism.Frontiers in endocrinology · 2019Review
Corrections and comments
- Erratum issued
Authors and funding
11 authors at 6 institutions in 2 countries.
Funding
Abstract
Context: The rarest genetic form of congenital hyperinsulinism (HI) has been associated with dominant inactivating mutations in uncoupling protein 2 (UCP2), a mitochondrial inner membrane carrier that modulates oxidation of glucose vs amino acids. Objective: To evaluate the frequency of UCP2 mutations in children with HI and phenotypic features of this form of HI. Design: We examined 211 children with diazoxide-responsive HI seen at The Children's Hospital of Philadelphia (CHOP) between 1997 and October 2016. Setting: CHOP Clinical and Translational Research Center. Results: Of 211 cases of diazoxide-responsive HI, we identified 5 unrelated children with UCP2 mutations (5 of 211; 2.4%). All 5 were diagnosed with HI before 6 months of age; diazoxide treatment was only partly effective in 3 of the 5. Among the 5 cases, 4 unique mutations (3 missense and 1 splicing) were identified. Three mutations were novel; 1 was previously reported. In vitro functional assays showed 30% to 75% decrease in UCP2 activity. Two of the children, when not taking diazoxide, developed hypoketotic-hypoglycemia after fasting 15 to 20 hours; a similar trend toward hypoglycemia after fasting 24 hours occurred in 4 adult carriers. In contrast, both children and 2 of the 4 carriers developed symptomatic hypoglycemia 4 hours following oral glucose. Unusual oscillating glucose and insulin responses to oral glucose were seen in both cases and carriers. Conclusions: These data indicate that dominant UCP2 mutations are a more important cause of HI than has been recognized and that affected individuals are markedly hypersensitive to glucose-induced hypoglycemia.
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Registered trials
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