Argininosuccinic aciduria: Perinatal diagnosis and early dietary management

Abstract

Summary A diagnosis of argininosuccinic aciduria was confirmed in a neonate whose older sibling was known to be affected. Argininosuccinic acid (ASA) was found in amniotic fluid, cord serum, initial urine, and spinal fluid. Microscopic examination of hair revealed trichorrhexis nodosa. Argininosuccinase activity was absent in cord blood erythrocytes. Maternal ASA excretion increased during the pregnancy. This report confirms the value of amniotic fluid ASA determinations for rapid prenatal diagnosis and describes methods for diagnosis and treatment in the neonatal period.