hyperinsulinemic hypoglycaemia, familial, type 3

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hyperinsulinemic hypoglycaemia, familial, type 3

An autosomal dominant condition (OMIM:602485) that is the most common cause of severe episodic hypoglycaemia in infancy, without early and aggressive control of which results in brain damage.

Molecular pathology
Caused by defects in GCK on chromosome 7p15.3-p15.1, which encodes a glucokinase that phosphorylates glucose, the first usual step in glucose metabolism.
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