HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5; HHF5

Question 1

What is  HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5; HHF5?

Accepted Answer

rare
autosomal dominant
mutation in the insulin receptor gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Hyperinsulinismus durch INSR-Mangel; HHF5

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 609968

Question 4

Which enzymes are involved?

Accepted Answer

Insulin receptor

Disease	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5; HHF5
Synonym	HHF5
OMIM	609968 OMIM = Online Mendelian Inheritance of Men
Orphanet	263458
Protein (UniProt)	Insulin receptor
Gene locus	19p13.2
ICD	E16.1
Summary	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