Hypoglycémies métaboliques inhabituelles de l'adulte

Inborn errors of metabolism (IEMs) frequently induce hypoglycemia in the newborn period or in infancy, although some cases have been reported in adults. Negative investigations for hypoglycemia should lead to IEM screening through specialized metabolic investigations. Such tests are mainly based upon sequential measurements of plasma/urine metabolites following a test meal ingestion or during a fasting test. Diagnosis is confirmed by demonstrating enzyme deficiency or specific mutations. IEMs are rare and underdiagnosed but many of them are treatable.