title: Abnormal alpha-aminoadipic acid excretion in a newborn with a defect in platelet aggregation and antenatal cerebral haemorrhage.
abstract: alpha-Aminoadipic acid (alpha AA) is an intermediate in lysine metabolism. We report a new case with alpha AA excess in urine and plasma, without alpha-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 alpha AA 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.
authors.affiliation: Laboratoire de Biochimie, Hôpital Pasteur, Nice, France.
authors.forename: M
authors.initials: M
authors.lastname: Candito
authors.forename: C
authors.initials: C
authors.lastname: Richelme
authors.forename: P
authors.initials: P
authors.lastname: Parvy
authors.forename: C
authors.initials: C
authors.lastname: Dageville
authors.forename: A
authors.initials: A
authors.lastname: Appert
authors.forename: S
authors.initials: S
authors.lastname: Bekri
authors.forename: D
authors.initials: D
authors.lastname: Rabier
authors.forename: P
authors.initials: P
authors.lastname: Chambon
authors.forename: R
authors.initials: R
authors.lastname: Mariani
authors.forename: P
authors.initials: P
authors.lastname: Kamoun
mesh_terms: D015074:2-Aminoadipic Acid / Q000652:urine*; D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood* / Q000473:pathology / Q000652:urine*; D001708:Biopterins / Q000031:analogs & derivatives / Q000097:blood; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D002543:Cerebral Hemorrhage / Q000097:blood* / Q000473:pathology / Q000652:urine*; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D019798:Neopterin; D010974:Platelet Aggregation / Q000502:physiology*; D012640:Seizures / Q000151:congenital; D014057:Tomography, X-Ray Computed; D006475:Vitamin K Deficiency Bleeding / Q000097:blood* / Q000473:pathology / Q000652:urine*
chemical_list: D015074:2-Aminoadipic Acid; D001708:Biopterins; D019798:Neopterin