Hypoinsulinemic hypoglycemia with hemihypertrophy

Definition:

Hypoinsulinemic hypoglycemia with hemihypertrophy (HIHGHH) is characterized by hemihypertrophy without any other features of Beckwith-Wiedemann syndrome [DS:H00713] and persistent hypoketotic, hypofattyacidemic hypoinsulinaemic hypoglycemia with no detectable incompletely processed high molecular weight IGF-II precursor proteins or insulin autoantibodies. There is no evidence of increased glucose clearance from the circulation. Patients have been found to carry a de novo mutation in the serine/threonine kinase AKT2.

References:

[1]. K Hussain, et al. An activating mutation of AKT2 and human hypoglycemia. Science. 2011 Oct 28;334(6055):474. [Content Brief]

[2]. K Hussain, et al. Hypoketotic hypofattyacidaemic hypoinsulinaemic hypoglycaemia in a child with hemihypertrophy? A new syndrome. Horm Res. 2004;61(5):222-7. [Content Brief]

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