Genetic testing for maturity onset diabetes of the young in childhood hyperglycaemia
a Department of Paediatrics, University of
Oxford, John Radcliffe Hospital, Oxford OX3 9DU, UK, b Department of Vascular Medicine and
Diabetes Research, Postgraduate Medical School, Exeter EX2 5AX, UK
Correspondence to: Dr Dunger. email:david.dunger{at}paediatrics.oxford.ac.uk
Accepted 24 November 1997
Mild hyperglycaemia is a common finding during minor
illness in children. The differential diagnosis includes maturity onset diabetes of the young (MODY), which can be a difficult diagnosis to
make clinically. As most genes resulting in MODY have been identified,
it is possible to make a firm diagnosis using mutation detection. A
case is reported of a 4 year old girl in whom a diagnosis of MODY2 was
established by the finding of a heterozygous missense mutation in exon
7 of the glucokinase gene, resulting in the substitution at codon 259 of alanine by threonine (A259T). Observations from other glucokinase
families suggest that hyperglycaemia in this child is likely to be
stable and will not require intensive medical follow up, whereas other
forms of MODY (1, 3, and 4) might carry a different prognosis.
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© 1998 by Archives of Disease in Childhood
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