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HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5; HHF5

HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5; HHF5
HHF5
609968
OMIM = Online Mendelian Inheritance of Men
263458
Insulin receptor
19p13.2
E16.1
rare
autosomal dominant
mutation in the insulin receptor gene
Laboratory findings    D-Glucose dec (plasma)
    Free fatty acids dec (serum)
    Ketone bodies (urine) n/d (urine)
    Ketone bodies (urine) dec (plasma)
Symptoms    hyperinsulinism
    hyperpigmentation
    hypoglycemia
    hypoketotic hypoglycemia
    onset, infancy
    onset, neonatal
    seizures