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Related Experiment Videos

Newborn screening for homocystinuria

S E Snyderman1, C Sansaricq

  • 1Department of Pediatrics, New York University Medical Center, NY 10016, USA.

Early Human Development
|April 25, 1997
PubMed
Summary

Newborn screening for homocystinuria may miss pyridoxine-responsive cases. Methionine levels, not homocystine, are more effective indicators in infants, suggesting a need for follow-up testing.

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Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Pyridoxine-responsive homocystinuria is a metabolic disorder.
  • Current newborn screening methods may fail to detect all affected infants, particularly those responsive to pyridoxine treatment.

Purpose of the Study:

  • To evaluate the effectiveness of screening for homocystine versus methionine levels in identifying infants with homocystinuria.
  • To determine the optimal biomarker for newborn screening of homocystinuria.

Main Methods:

  • Comparison of plasma methionine and urine homocystine levels in 11 non-responsive infants at diagnosis.
  • Analysis of the abnormality and detectability of both biomarkers.

Main Results:

  • Plasma methionine levels were significantly more abnormal than homocystine levels in the studied infants.
  • Urine homocystine was often undetectable or present at lower concentrations than methionine.
  • Methionine determination proved more effective than homocystine determination for initial screening.

Conclusions:

  • Screening for elevated methionine is superior to homocystine for detecting homocystinuria in newborns.
  • Current screening protocols may miss pyridoxine-responsive homocystinuria cases.
  • A potential need for a second blood specimen at a later age to identify pyridoxine-responsive infants is suggested.

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