[A patient with neonatal citrullinemia].
In a four days old neonate, showing feeding difficulties, temperature imbalance, convulsions and coma, citrullinaemia was diagnosed. Subsequent treatment, consisting of protein-restriction, exchange transfusions, arginine suppletion and using an alternative pathway for waste nitrogen excretion (through sodium benzoate administration), resulted in a stable clinical and biochemical condition. Aged ten months, our patient shows a normal growth with psychomotor retardation probably linked with the perinatal events. Because it seems possible nowadays to prolong survival in neonates with inborn errors of urea synthesis, prompt and correct diagnosing of these disease entities becomes urgent in view of the long-term prognosis for the children involved.
D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood* / Q000175:diagnosis / Q000628:therapy; D001120:Arginine / Q000008:administration & dosage; D001565:Benzoates / Q000008:administration & dosage; D019817:Benzoic Acid; D002956:Citrulline / Q000097:blood*; D005078:Exchange Transfusion, Whole Blood; D006801:Humans; D007231:Infant, Newborn; D008297:Male
D001565:Benzoates; D002956:Citrulline; D019817:Benzoic Acid; D001120:Arginine
Een patiënt met neonatale citrullinemie.