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Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy.

Abstract:

OBJECTIVE: To evaluate the clinical response to sulphonylurea treatment in a child with a homozygous T168A GCK (glucokinase) mutation, causing permanent neonatal diabetes mellitus (PNDM). STUDY DESIGN: Oral glibenclamide was given for 3 months. Pancreatic beta cell function was assessed by a glucagon stimulation test. Mutant and wild-type (WT) GCK were characterized. RESULTS: Sulphonylurea treatment resulted in a 12-fold increase in basal and stimulated C-peptide levels. HbA1c levels were re...

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Publisher copy:
10.1016/j.jpeds.2007.12.037

Authors


Turkkahraman, D More by this author
Tribble, ND More by this author
Akçurin, S More by this author
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Journal:
The Journal of pediatrics
Volume:
153
Issue:
1
Pages:
122-126
Publication date:
2008-07-05
DOI:
EISSN:
1097-6833
ISSN:
0022-3476
URN:
uuid:816a8aeb-8454-4fcc-bddd-13a0f4ae7b79
Source identifiers:
26022
Local pid:
pubs:26022

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