PRENATAL-DIAGNOSIS OF THE UREA CYCLE DISEASES - A SURVEY OF THE EUROPEAN CASES

A European survey of prenatal diagnosis cases involving urea cycle dis eases was performed. Citrullinemia was the most frequently investigate d disease (108 cases). Other diseases are, in order of frequency, argi ninosuccinic aciduria (75 cases), ornithine transcarbamylase defect (5 2 cases), carbamoylphosphate synthetase defect (8 cases), triple H (3 cases), and arginase deficiency (1 case). Only one disease (ornithine transcarbamylase defect) is presently diagnosed using molecular biolog y methods. (C) 1995 Wiley-Liss, Inc.