[Screening of newborns for argininosuccinase deficiency. First experiences in Austria (author's transl)].
In 1973, the screening for argininosuccinase deficiency was taken up by the Austrian Metabolic Disorder Screening Program using Murphey's enzyme auxotroph test. Amongst 293802 tested newborn infants, two cases of this disorder could be identified, which under protein restricted diet had a normal development until now. Inhibition zones due to antibiotic or desinfectant contamination do not disturb test evaluation in contrast to the bacterial inhibition assay (Guthrie test). The frequency of "false positive" results is small (0.05%) as well as additional work for this test procedure. So screening for argininosuccinase deficiency seems to be a useful completion of a neonatal blood screening program.
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis*; D056807:Argininosuccinic Aciduria; D001317:Austria; D006801:Humans; D007231:Infant, Newborn; D008190:Lyases / Q000172:deficiency*; D008403:Mass Screening; D008722:Methods
D008190:Lyases
Erste Erfahrungen mit einem Neugeborenen-Blutscreening auf Argininosuccinasemangel in Osterreich.