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hyperinsulinism due to glucokinase deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hyperinsulinism due to glucokinase deficiency

MONDO:0011236

Also known as:hyperinsulinemic hypoglycemia due to glucokinase deficiencyhyperinsulinemic hypoglycemia, familial, type 3HHF3

Overview

Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism, caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae.

GeneticsAutosomal dominant · GCK (chr 7)

OnsetLATE

ResearchLimited published research (8 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Hyperinsulinemic hypoglycemia; and common findings: Hypoglycemic seizures. 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Hypoglycemic seizures, Intellectual disability

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

GCK encodes glucokinase (465 aa). Catalyzes the phosphorylation of hexose, such as D-glucose, D-fructose and D-mannose, to hexose 6-phosphate (D-glucose 6-phosphate, D-fructose 6-phosphate and D-mannose 6-phosphate, respectively). Highest expression in Pituitary (34.5 TPM) and Brain Cerebellar Hemisphere (7.2 TPM).

Hyperinsulinism due to glucokinase deficiency is associated with mutations in the GCK gene on chromosome 7.

GCK is classified as a druggable target (Druggable Genome, Enzyme, and Kinase categories) with score 6.5.

Diagnosis

Genetic testing for GCK is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature, 1 common feature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for hyperinsulinism due to glucokinase deficiency.

8 publications have been identified in PubMed for hyperinsulinism due to glucokinase deficiency. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (25%), and Basic Science / Preclinical (13%).

Recent Publications

Gu L (2026). [PMID: 41659588](https://pubmed.ncbi.nlm.nih.gov/41659588/). *bioRxiv : the preprint server for biology*. [Case Report / Case Series]
Lloyd M (2026). [PMID: 41891907](https://pubmed.ncbi.nlm.nih.gov/41891907/). *FASEB journal : official publication of the Federation of American Societies for Experimental Biology*. [Review / Meta-Analysis]
Mitteer LM (2026). [PMID: 42149805](https://pubmed.ncbi.nlm.nih.gov/42149805/). *Horm Res Paediatr*. [Case Report / Case Series]
Gorton MW (2025). [PMID: 40431415](https://pubmed.ncbi.nlm.nih.gov/40431415/). *Nutrients*. [Basic Science / Preclinical]
Carsote M (2024). [PMID: 38928056](https://pubmed.ncbi.nlm.nih.gov/38928056/). *International journal of molecular sciences*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 3:01 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:602485

Orphanet

European rare disease database

Orphanet:79299

GARD

Genetic and Rare Diseases Info Center

GARD:2818

Questions for Your Care Team

→Should I pursue genetic testing for GCK, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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hyperinsulinism due to glucokinase deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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