A loss-of-function mutation in KCNJ11 causing sulfonylurea-sensitive diabetes in early adult life

Conclusions/interpretationOur data support the increasing evidence that individuals with mild loss-of-function KATP channel mutations may develop insulin deficiency in early adulthood and even frank diabetes in middle age. In this case, the patient may have had hyperinsulinism that escaped detection in early life. Our results support the importance of functional analysis of KATP channel mutations in cases of atypical diabetes.Graphical Abstract
Source: Diabetologia - Category: Endocrinology Source Type: research