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What are infant metabolic errors?

Inborn errors of metabolism, also known as congenital metabolic diseases or metabolic disorders, are usually due to defects of single genes that code for enzymes that break down and build chemicals in the body. In most of the disorders, problems arise due to the accumulation of chemicals that are toxic or interfere with normal function, or to a deficiency in essential chemicals.

The earliest screening for a congenital metabolic disease, phenylketonuria (PKU), was pioneered in the late 1960s, and involves using blood samples on filter paper obtained by pricking a newborn baby's heel on the second day of life. This PKU test is still in use today. Congenital hypothyroidism was the second disease widely tested in the 1970s. The development of tandem mass spectrometry screening in the early 1990s led to a large expansion of potentially detectable congenital metabolic diseases. Additional tests have been added to many screening programs over the last decade. Today newborn screening has been adopted by most countries around the world.

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