| HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, HHF1 | |
| HHF1; PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY; PHHI; NESIDIOBLASTOSIS OF PANCREAS | |
|
256450
OMIM = Online Mendelian Inheritance of Men | |
|
276575 | |
| ATP-binding cassette sub-family C member 8 | |
| rare (1:40000) autosomal dominant autosomal recessive mutation in the ABCC8 gene 11 known monogenic forms of hyperinsulinism and several associated syndromes [Vajravelu 2018] - KATP Hyperinsulinism (ABCC8 or KCNJ11) - GDH Hyperinsulinism (GLUD1) - HNF4A and HNF1A Hyperinsulinism (HNF4A, HNF1A) - GCK Hyperinsulinism (GCK) - UCP2 Hyperinsulinism (UCP2) - MCT1 Hyperinsulinism (SLC16A1) - FOXA2 Hyperinsulinism (FOXA2) - Beckwith-Wiedemann Syndrome (BWS) - Kabuki Syndrome (KS) - Turner Syndrome - Congenital disorders of glycosylation and related mutations | |
| Laboratory findings | 3-Hydroxybutyric acid normal/dec (plasma) D-Glucose inc (serum) Free fatty acids dec (plasma) Insulin inc (serum) Insulin-like growth factor binding protein-1 (IGFBP-1) inc (serum) Insulin/Glucose inc (serum) |
| Symptoms | coma hyperinsulinism hypoglycemia hypoketotic hypoglycemia increased body hair increased weight for age, height and sex (>2 SD) macrosomia mental retardation onset, infancy onset, neonatal seizures |