EEG findings as an aid to the diagnosis of neonatal non-ketotic hyperglycinaemia

The periodic EEG pattern during the first week associated with lethargy and myoclonic jerks is the major clinical sign in non-ketotic hyperglycinaemia. The blood and urine glycine level may be at the upper limit of the normal range in some cases. Diagnosis must be done with this characteristic clinical picture associated with a high CSF glycine level.