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.
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OMIM.ORG article Omim 240900 |