Newborn Screening for Metabolic Diseases

By David Millington

The second generation of newborn screening techniques can detect many more diseases, allowing the prevention of brain damage and death

Medicine

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January-February 2002

Volume 90, Number 1
Page 40

DOI: 10.1511/2002.13.40

Metabolic diseases arise from inherited defects in enzymes involved in the production of energy, a process that is essential for the well-being of cells in every organ of a healthy person. Most of these "inborn errors of metabolism" occur when a child inherits two copies of a defective gene, one from each parent.

Jennie Woodcock/Corbis

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