[12 years Austrian newborn screening for inborn errors of metabolism. Results with special reference to phenylketonuria, hyperphenylalaninemia and histidinemia (author's transl)].
The Austrian Screening Program performed during the last 12 years 5,833.381 tests in 1,003.841 newborns to detect at last 10 different disorders. 225 cases were uncovered: 81 PKU, 1 Dihydropteridine-Reductase-Deficiency, 37 Hyperphenylalaninemias of long duration, 23 Galactosemias by Transferase deficiency, 6 by Kinase deficiency, 1 Leucinosis, 1 Homocystinuria, 54 Histidinemias, 2 Arginino-Succinic-Acidurias, 3 alpha-1-Antitrypsin-Inhibitor-Deficiencies, 15 Hypothyroidism as well as 1 Phosphoglucomutase-Deficiency. Since 1976 97% of all live births were tested. Except in Hypothyroidism in Austria also treatment and follow-up are centralized. This makes a higher treatment quality and important observations possible. In PKU-patients there is a decline in EQ/IQ between 1 and 6 to 8 years of age of 13 points in average (105--92). This decline can not be correlated with treatment introduction age (26.4 days) and treatment quality. Since also the parents IQ's are significantly below the IQ's of a recent control group and mothers IQ are paralleling the IQ's of their PKU children the decline seems to be a phenylalanine-blood-level-independent phenomenon. Also one quarter of the patients with Histidinemia shows the same IQ decline. The difference between Bühler-Hetzer and Kramer results at 4 years of age seem to have prognostic value. Comparison for 1978 of the expenses of the total screening plus the one of diet in 59 PKU patients already psychometrically tested (average IQ 100) with the expense for institutionalisation of the same 59 shows the former 5 million A.S. lower.
D001317:Austria; D005260:Female; D006639:Histidine / Q000097:blood; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis / Q000453:epidemiology*; D008607:Intellectual Disability / Q000175:diagnosis / Q000453:epidemiology; D008297:Male; D008403:Mass Screening; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000453:epidemiology*; D010649:Phenylalanine / Q000097:blood; D010661:Phenylketonurias / Q000175:diagnosis / Q000453:epidemiology*; D011594:Psychometrics
D010649:Phenylalanine; D006639:Histidine
Zwölf Jahre österreichisches Programm zur Früherfassung angeborener Stoffwechselanomalien. Ergebnisse unter besonderer Berücksichtigung von Phenylketonurie, Hypearphenylalaninämie und Histidinämie.