GENETIC TESTING FOR MATURITY-ONSET DIABETES OF THE YOUNG IN CHILDHOODHYPERGLYCEMIA

Mild hyperglycaemia is a common finding during minor illness in childr en. 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 t o make a firm diagnosis using mutation detection. A case is reported o f a 4 year old girl in whom a diagnosis of MODY2 was established by th e finding of a heterozygous missense mutation in exon 7 of the glucoki nase gene, resulting in the substitution at codon 259 of alanine by th reonine (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.