Type | Gene | Locus | Inheritance | Diazoxide-responsive | Features |
KATP-HI[1-2] | ABCC8, KCNJ11 | 11p15 | Recessive, biallelic | No | Diffuse histology LGA, protein-induced hypoglycemia, high GIR requirement |
Recessive, monoallelic* | No | Focal histology Protein-induced hypoglycemia, approximately 50% LGA, moderate-high GIR requirement | |||
Dominant | No | Diffuse histology Clinically indistinguishable from recessive forms | |||
Dominant | Yes | Diffuse histology Milder phenotype with less severe hypoglycemia, lower GIR requirement, protein-induced hypoglycemia | |||
GDH-HI[3] | GLUD1 | 10q23 | Dominant, de novo | Yes | Protein-induced hypoglycemia, elevated ammonia, seizures, learning disabilities |
GCK-HI[4] | GCK | 7p13 | Dominant, de novo | Variable | Wide spectrum of severity and age at presentation |
HNF4A-HI[5] | HNF4A | 20q13 | Dominant | Yes | LGA, risk for diabetes in adolescence or adulthood |
HNF1A-HI[6] | HNF1A | 12q24 | Dominant | Yes | Risk for diabetes in adolescence or adulthood |
SCHAD-HI[7] | HADH | 4q25 | Recessive | Yes | Protein-induced hypoglycemia, abnormal acylcarnitine profile and urine organic acids |
UCP2-HI[8] | UCP2 | 11q13 | Dominant | Yes | Mild hypoglycemia |
MCT1-HI[9] | SCL16A1 | 1p13 | Dominant | Variable | Hypoglycemia in response to anaerobic exercise |
HK1-HI[10] | HK1 | 10q22 | Dominant | Variable | Normal birth weight |
KATP: adenosine triphosphate-sensitive potassium channel; HI: hyperinsulinism; LGA: large for gestational age; GIR: glucose infusion rate; GDH: glutamate dehydrogenase-related hyperinsulinism; GCK: glucokinase; HNF4A: hepatocyte nuclear factor 4-alpha; HNF1A: hepatocyte nuclear factor 1-alpha; SCHAD: short-chain 3-hydroxyacyl-CoA dehydrogenase; HADH: 3-hydroxyacyl-coenzyme A dehydrogenase; UCP2: uncoupling protein 2; MCT1: monocarboxylic acid transporter 1.
* Paternally inherited recessive mutation with somatic loss of maternal 11p15 region, resulting in paternal isodisomy.Do you want to add Medilib to your home screen?