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Summary
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3 HHF3
602485
OMIM = Online Medalian Inheritance of Men
79299
7p13
rare
autosomal dominant
symptoms
coma
diabetes mellitus
epilepsy
hyperinsulinism
hypoglycemia
hypoketotic hypoglycemia
mental retardation
seizures
laboratory finding
Glucose decreasedplasma
Free fatty acids decreasedserum
Ketone bodies decreased, fastedurine
Literature
Liss DB,et al.What is the clinical significance of 5-oxoproline (pyroglutamic acid) in high anion gap metabolic acidosis following paracetamol (acetaminophen) exposure?Clin Toxicol (Phila)519817-8272013
Calpena E,et al.New insights into the genetics of 5-oxoprolinase deficiency and further evidence that it is a benign biochemical conditionEur J Pediatr1743407-4112015