DISEASE: Hypoinsulinemic hypoglycemia with hemihypertrophy
エントリ
H01909
名称
Hypoinsulinemic hypoglycemia with hemihypertrophy
概要
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.
Hussain K, Challis B, Rocha N, Payne F, Minic M, Thompson A, Daly A, Scott C, Harris J, Smillie BJ, Savage DB, Ramaswami U, De Lonlay P, O'Rahilly S, Barroso I, Semple RK
タイトル
An activating mutation of AKT2 and human hypoglycemia.