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[Routine screening for inborn errors using urine filterpaper specimens at age 4-5 weeks (author's transl)]
Padiatrie Und Padologie
|January 1, 1976
Summary
Urine screening detects inborn errors of amino acid metabolism missed by newborn blood tests, identifying conditions like Cystinuria and Histidinaemia. However, the rarity of exclusively urine-detectable disorders necessitates re-evaluating its overall usefulness.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Context:
- Newborn blood screening effectively detects many metabolic disorders.
- Certain inborn errors of amino acid metabolism are not reliably detected by newborn blood screening.
- Urine screening offers a complementary diagnostic approach.
Purpose:
- To evaluate the effectiveness of urine screening for detecting inborn errors of amino acid metabolism in newborns.
- To compare the diagnostic yield of urine screening with newborn blood screening.
- To assess the overall utility of urine screening in pediatric metabolic disorder detection.
Summary:
- A 4-6 week urine screening program using thin-layer chromatography tested 70,400 newborns.
- The study identified various metabolic disorders including incomplete Cystinuria, Prolinuria, and Histidinaemia.
- Urine screening detected cases of Histidinaemia missed by newborn blood screening due to low initial blood levels.
Impact:
- Highlights the limitations of newborn blood screening for specific metabolic disorders.
- Identifies rare but treatable conditions missed by standard newborn screening protocols.
- Suggests a need to re-evaluate the role and cost-effectiveness of urine screening programs.