Hypoinsulinemic hypoglycemia with hemihypertrophy is caused by a heterozygous gain-of-function mutation. Dominant inheritance is not observable as all patients die young. Conclusively all cases reported so far are spontaneous, de novo mutations. An imprtant clinical feature is macrosomia at birth. Soon a hypoclycemia becomes apparent. Other pathological laboratory findings include: hypoketotic, hypofattyacidemic, hypoinsulinemia.
|Disturbances of glucose metabolism|
|Disturbed regulators of lipid and carbohydrate metabolism|
|Fasting plasma glucose trait loci|
Hussain K et al. (2011) An activating mutation of AKT2 and human hypoglycemia.[^]
HANSSON G et al. (1963) Familial neonatal hypoglycemia. A syndrome resembling foetopathia diabetica.[^]
Hussain K et al. (2004) Hypoketotic hypofattyacidaemic hypoinsulinaemic hypoglycaemia in a child with hemihypertrophy? A new syndrome.[^]