Article
Rare forms of congenital hyperinsulinism.
Seminars in pediatric surgery - 1 Feb 2011
Marquard Jan, Palladino Andrew A, Stanley Charles A, Mayatepek Ertan, Meissner Thomas
Abstract excerpt
Rare forms of congenital hyperinsulinism (CHI) are caused by mutations in GLUD1 (encoding glutamate dehydrogenase), GCK (encoding glucokinase), HADH (encoding for L-3-hydroxyacyl-CoA dehydrogenase), SLC16A1 (encoding the monocarboxylat transporter 1), HNF4A (encoding hepatocyte nuclear factor 4α) or UCP2 (encoding mitochondrial uncoupling protein 2). The clinical presentation is very heterogeneous in regards to...
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