Screening for inherited metabolic disease in Wales using urine-impregnated filter paper.
Urine specimens from 135 295 infants have been collected on filter papers and tested for 7 abnormal urinary constituents using spot tests and paper chromatography. The method has detected 5 infants with phenylketonuria, 4 with histidinaemia, 5 with cystinuria, 5 with diabetes mellitus, and one with alcaptonuria. Transient abnormalities such as tyrosyluria, generalized aminoaciduria, cystinuria, and glycosuria have been noted. 2 phenylketonuric infants failed to excrete a detectable quantity of o-hydroxyphenlacetic acid at the time of testing. The findings show that the detection of this compound in urine is an unreliable method of screening for phenylketonuria.
D000474:Alkaptonuria / Q000175:diagnosis; D002854:Chromatography, Paper; D003555:Cystinuria / Q000175:diagnosis; D003920:Diabetes Mellitus / Q000175:diagnosis; D005374:Filtration; D006029:Glycosuria / Q000175:diagnosis; D006639:Histidine / Q000097:blood; D006712:Homocystinuria / Q000175:diagnosis; D006801:Humans; D007231:Infant, Newborn; D008403:Mass Screening; D008661:Metabolism, Inborn Errors / Q000652:urine*; D010209:Paper; D010661:Phenylketonurias / Q000175:diagnosis; D011507:Proteinuria / Q000175:diagnosis; D014852:Wales
D006639:Histidine