HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7

Question 1

What is  HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7?

Accepted Answer

rare
autosomal dominant
mutation in the SLC16A1 gene
Exercise induced hyperinsulinaemic hypoglycaemia should be included in the differential diagnosis of recurrent exercise related syncope and other disturbances of consciousness [Meissner, T et al. 2001]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Hyperinsulinismus, anstrengungsinduzierter; Monocarboxylat-Transporter 1-Mangel; HHF7

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 610021

Question 4

Which enzymes are involved?

Accepted Answer

Monocarboxylate transporter 1

Disease	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7
Synonym	EXERCISE-INDUCED-HYPERINSULINSM [EIHI]; MCT1-HYPERINSULINISM
OMIM	610021 OMIM = Online Mendelian Inheritance of Men
Orphanet	165991
Protein (UniProt)	Monocarboxylate transporter 1
Gene locus	1p13.2
ICD	E16.1
Summary	rare autosomal dominant mutation in the SLC16A1 gene Exercise induced hyperinsulinaemic hypoglycaemia should be included in the differential diagnosis of recurrent exercise related syncope and other disturbances of consciousness [Meissner, T et al. 2001]
Laboratory findings	D-Glucose dec (serum) Free fatty acids dec (serum) Insulin inc (plasma) Insulin/Glucose inc (serum)
Symptoms	coma hyperinsulinism hypoglycemia hypoketotic hypoglycemia onset, infancy seizures syncope