[Early diagnosis of hereditary metabolic diseases in the newborn by means of microbiological Guthrie tests].
The screening method of so-called bacterial inhibition and growth assay (Guthrie-test) is described and the number of newborn babies tested over the whole of West Germany from 1969--1974 is stated. 626 cases of PKU were detected early and tested after these dates. Only a few german laboratories are able to detect other inborn errors of metabolism such as MSUD (maple syrup urine disease), homocystinuria, histidinemia and galactosemia. The ratio of illnesses therefore can only be estimated and not stated with statistical evidence.
D001412:Bacillus subtilis / Q000378:metabolism; D005693:Galactosemias / Q000175:diagnosis; D005860:Germany, West; D006639:Histidine / Q000097:blood; D006712:Homocystinuria / Q000175:diagnosis; D006801:Humans; D007231:Infant, Newborn; D008375:Maple Syrup Urine Disease / Q000175:diagnosis; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D008828:Microbiological Techniques; D010661:Phenylketonurias / Q000175:diagnosis
D006639:Histidine
Früherfassung hereditärer Stoffwechselstörungen im Neugeborenenalter mit mikrobiologischen Guthrie-tests.