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Congenital hyperinsulinism (HI) is a clinically and genetically
heterogeneous entity. The clinical heterogeneity is manifested by
severity ranging from extremely severe, life threatening disease to
very mild clinical symptoms, which may even be difficult to identify.
Furthermore, clinical responsiveness to medical and surgical management
is extremely variable. Recent discoveries have begun to clarify the
molecular aetiology of this disease and thus the mechanisms responsible
for this clinical heterogeneity are becoming more clear. Mutations in 4 different genes have been identified in patients with this clinical
syndrome. Most cases are caused by mutations in either of the 2 subunits of the β cell ATP sensitive K+ channel
(KATP), whereas others are caused by mutations in the β cell enzymes glucokinase and glutamate dehydrogenase. However, for as many as 50% of the cases, no genetic aetiology has yet
been determined. The study of the genetics of this disease has provided
important new information about β cell physiology. Although the
clinical ramifications of these findings are still limited, in some
situations genetic studies might greatly aid in patient management.