Acute neonatal and benign citrullinaemia in one sibship.
Citrullinaemia was diagnosed in an infant who died at age 8 days. The clinical picture was of the disease in its acute neonatal form. A sib has a blood citrulline of 100 times normal and about 10% of normal argininosuccinic acid synthetase activity in cultured fibroblasts. Clinically he is normal with an IQ of 94 on the Wechsler Intelligence Scale for Children.
D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D000596:Amino Acids / Q000652:urine; D001124:Argininosuccinate Synthase / Q000172:deficiency; D002648:Child; D002956:Citrulline / Q000097:blood*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male
D000596:Amino Acids; D002956:Citrulline; D001124:Argininosuccinate Synthase