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Article

Dominantly acting <i>ABCC8</i> mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia

26 May 2010

Abstract excerpt

Recessive inactivating mutations in the ABCC8 and KCNJ11 genes encoding the adenosine triphosphate-sensitive potassium (K(ATP)) channel subunit sulphonylurea receptor 1 (SUR1) and inwardly rectifying potassium channel subunit (Kir6.2) are the most common cause of hyperinsulinaemic hypoglycaemia (HH). Most of these patients do not respond to treatment with the (K(ATP)) channel agonist diazoxide. Dominant...

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Identifiers

PMID: 20573158
DOI: 10.1111/j.1399-0004.2010.01476.x

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