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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
birthweight high (large for gestational age)
hyperinsulinism
hypoglycemia
hypoketotic hypoglycemia
macrosomia
seizures
laboratory finding
Free fatty acids decreasedserum
Glucose decreasedplasma
Ketone bodies decreased (during hypoglycemiaurine, plasma
Literature
Hulley SL,et al.Transient 5-oxoprolinuria: unusually high anion gap acidosis in an infantEur J Pediatr174121685-16882015