Table 1 The genes implicated in congenital hyperinsulinism with the gene loci, proteins affected and patterns of inheritance
Gene (locus)OMIMProteinMechanismInheritance
ABCC8(11p15.1)600509Sulfonylurea receptor1 (SUR1)Defects in KATP biogenesis and turnover, trafficking and nucleotide regulationAR/AD
KCNJ11(11p15.1)600937Inward rectifying potassium channel (Kir6.2)Defects in KATP biogenesis and turnover, trafficking and nucleotide regulationAR/AD
GLUD1(10q23.3)138130Glutamate dehydrogenase (GDH)Loss of inhibition of GDH by GTP and increased basal GDH activityAD
GCK(7p15–13)138079GlucokinaseIncreased affinity of GCK for glucoseAD
HADH(4q22–26)6016093-hydroxyacyl-CoA dehydrogenaseUnknownAR
SLC16A1(1p13.2–p12)600682Monocarboxylate transporter 1 (MCT1)Increased expression of MCT1AD
HNF4A(20q12–13.1)600281Hepatocyte nuclear factor 4 alphaUnknownAD

  • AD, autosomal dominant; AR, autosomal recessive.