| HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY; HIHGHH (AKT2) | |
|
240900
OMIM = Online Mendelian Inheritance of Men | |
|
293964 | |
| RAC-beta serine/threonine-protein kinase | |
very rare autosomal dominant mutation in the AKT2 gene | |
| Laboratory findings | D-Glucose dec (blood) Insulin dec (urine) |
| Symptoms | hemihypertrophy hypoglycemia hypoketotic hypoglycemia onset, infancy onset, neonatal seizures |