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

Abstract

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.

• Authors: D M Bradley
• Journal: Archives of disease in childhood (Arch Dis Child) Vol. 50 Issue 4 Pg. 264-8 (Apr 1975) ISSN: 1468-2044 [Electronic] England
• PMID: 1147666 (Publication Type: Journal Article)

Chemical References

• Histidine

Topics

• Alkaptonuria (diagnosis)
• Chromatography, Paper
• Cystinuria (diagnosis)
• Diabetes Mellitus (diagnosis)
• Filtration
• Glycosuria (diagnosis)
• Histidine (blood)
• Homocystinuria (diagnosis)
• Humans
• Infant, Newborn
• Mass Screening
• Metabolism, Inborn Errors (urine)
• Paper
• Phenylketonurias (diagnosis)
• Proteinuria (diagnosis)
• Wales