HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3; HHF3

Question 1

What is  HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3; HHF3?

Accepted Answer

rare
autosomal dominant
mutation in the glucokinase gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Hyperinsulinismus durch Glukokinase-Mangel; HHF3

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 602485

Question 4

Which enzymes are involved?

Accepted Answer

Glucokinase, ATP-binding cassette sub-family C member 8

Disease	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3; HHF3
OMIM	602485 OMIM = Online Mendelian Inheritance of Men
Orphanet	79299
Protein (UniProt)	Glucokinase, ATP-binding cassette sub-family C member 8
Gene locus	7p13
ICD	E16.1
Summary	rare autosomal dominant mutation in the glucokinase gene
Laboratory findings	D-Glucose dec (plasma) Free fatty acids dec (serum) Ketone bodies (urine) dec (urine)
Symptoms	coma diabetes mellitus epilepsy hyperinsulinism hypoglycemia hypoketotic hypoglycemia mental retardation onset, infancy seizures