Visit Metagene.de!
Summary
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3 HHF3
602485
OMIM = Online Medalian Inheritance of Men
79299
7p13
rare
autosomal dominant
mutation in the glucokinase gene
symptoms
coma
diabetes mellitus
epilepsy
hyperinsulinism
hypoglycemia
hypoketotic hypoglycemia
mental retardation
seizures
laboratory finding
D-Glucose decreasedplasma
Free fatty acids decreasedserum
Ketone bodies decreased, fastedurine
Literature
Mueller T,et al.Congenital secretory diarrhoea caused by activating germline mutations in GUCY2CGut6581306-13132016
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