Screening for inherited metabolic disease in Wales using urine impregnated filter paper

Abstract

Urine specimens from 135 295 infants have been collected on filter paper 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 abnormalties such as tyrosyluria, generalized aminoaciduria, cystinuria, and glycosuria have been noted. 2 phenylketonuric infants failed to excrete a detectable quantity of o hydroxyphenylacetic 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.