Format

Send to

Choose Destination
See comment in PubMed Commons below
Clin Biochem. 2005 Apr;38(4):296-309.

A biochemical perspective on the use of tandem mass spectrometry for newborn screening and clinical testing.

Author information

1
Pediatrix Analytical, 90 Emerson Lane, Bridgeville, PA 15017, USA. donald_chace@pediatrix.com

Erratum in

  • Clin Biochem. 2005 May;38(5):495.

Abstract

The first newborn screen was a clinical test to detect a disorder of the biochemistry of the amino acid, phenylalanine. This disorder, known as phenylketonuria, produces profound mental retardation if not detected and treated early in life. Early screening programs relied on inexpensive population screening techniques that have all but been replaced by more accurate analytical methods such as tandem mass spectrometry (MS/MS). MS/MS enables a multianalyte approach for detecting biochemical disorders such that a metabolic profile is obtained rather than a single analyte measurement. The metabolic profile has clearly shown improvements in the detection of diseases such as phenylketonuria and several new disorders arising from errors in fatty acid oxidation and organic acid metabolism. MS/MS is a powerful tool for accessing the metabolic status of a newborn and can detect both inborn metabolic errors as well as examine the effect of acquired diseases or pharmacologic intervention on intermediary metabolism.

[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science
    Loading ...
    Support Center