Journal article icon

Journal article

Heterogeneity in disease severity in a family with a novel G68V GCK activating mutation causing persistent hyperinsulinaemic hypoglycaemia of infancy.

Abstract:

BACKGROUND/AIM: Glucokinase (GCK)-activating mutations cause persistent hyperinsulinaemic hypoglycaemia of infancy (PHHI). GCK-PHHI patients have regulated insulin secretion and can usually be treated with diazoxide. The six reported cases suggest that the severity of the mutation predicts the clinical phenotype. The aim of this study was to relate genotype to phenotype [clinical phenotype, glucose-stimulated insulin release (GSIR) and GCK functional analysis] in a large pedigree with eight a...

Expand abstract
Publication status:
Published

Actions


Access Document


Authors


Expand authors...
Journal:
Diabetic medicine : a journal of the British Diabetic Association
Volume:
24
Issue:
12
Pages:
1393-1399
Publication date:
2007-12-05
DOI:
EISSN:
1464-5491
ISSN:
0742-3071
URN:
uuid:7ceba7df-d938-49a8-b436-77ff4f7db34e
Source identifiers:
20286
Local pid:
pubs:20286

Terms of use


Metrics


Views and Downloads






If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP