Twenty cases of ketotic hypoglycaemia have been diagnosed in one medical unit in the past 8 years. Typically the children were `dysmature' at birth, with a history suggesting hypoglycaemia in the first 36 hours of life, and they have remained small and thin. 4 are the smaller of non-identical twins.
Most presented acutely with recurrent early morning convulsions after the age of 1 year. A dietary ketogenic provocation test, which is the standard diagnostic procedure, induced hypoglycaemia in the 19 cases in which it was done, but the children frequently remained asymptomatic. This contrasts with the original description of the test.
Treatment with carbohydrate supplements at bedtime has been successful in controlling symptoms in 16 of the 19 children followed up. Of the failures, 1 is attributable to parental non-co-operation, while in 2 others the original diagnosis was possibly erroneous.
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