Disease

HK1 associated hyperinsulinism1

Gene

HK1

Inheritance AD
Current Treatments Diazoxide, somatostatin analogs, nifedipine, glucagon, IGF-1, glucocorticoids, growth hormone, pancreatic resection, mTOR inhibitors, GLP-1 receptor antagonists, sirolimus
Evidence for Treatment expert opinion
Non-Molecular Testing Availability yes
Non-Molecular Test glucose, insulin, free fatty acid levels1
Disease Frequency (per 100,000) 2.42
Genes Included in Disease Frequency ABCC8, GCK, GLUD1, HADH, HK1, HNF1A, HNF4A, PMM2, KCNJ11, SLC16A1, UCP2, FOXA2
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=Hyperinsulinism&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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