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Summary
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, HHF2
HHF2 PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY PHHI NESIDIOBLASTOSIS
601820
OMIM = Online Medalian Inheritance of Men
276580
11p15.1
rare
autosomal recessvie
symptoms
high birthweight (large for gestational age)
hyperinsulinism
hypoglycemia
hypoketotic hypoglycemia
macrosomia
onset, infancy
onset, neonatal
seizures
laboratory finding
Free fatty acids decreasedserum
D-Glucose decreasedplasma
Ketone bodies decreased (during hypoglycemiaurine, plasma
Literature
Mueller T,et al.Congenital secretory diarrhoea caused by activating germline mutations in GUCY2CGut6581306-13132016
Hulley SL,et al.Transient 5-oxoprolinuria: unusually high anion gap acidosis in an infantEur J Pediatr174121685-16882015