Abnormal a-aminoadipic acid excretion in a newborn with a defect in platelet aggregation and antenatal cerebral haemorrhage

a-Aminoadipic acid (aAA) is an intermediate in lysine metabolism. We report a new case with aAA excess in urine and plasma, without a-ketoadipic acid, in a full-term male child born to unrelated parents; he presented at 24h of life with seizures that failed to respond to phenobarbital, clonazepam, and Vigabatrin and death occurred on the 38th day of life. Brain imaging suggested antenatal haemorrhage. Small quantities of aAA were also detected in the blood and urine of both parents and a healthy brother, all three of whom exhibited the same defect in platelet aggregation as the deceased child. Both parents had decreased levels of plasma neopterin, a finding that might be related to the immunodeficiency described in other cases.