Newborn screening for inborn errors of metabolism

Bridget Wilcken, Piero Rinaldo, Dietrich Matern

Research output: Chapter in Book/Report/Conference proceedingChapter

4 Scopus citations


Newborn screening was first applied to the detection of phenylketonuria (PKU) by a bacterial inhibition assay pioneered in 1961 by Guthrie, who was also responsible for the introduction of the use of a dried blood sample [1]. This was followed by further bacterial inhibition assays to detect other aminoacidopathies (maple syrup urine disease, homocystinuria, urea cycle disorders, etc.), but only screening for PKU was widely adopted. In 1975 Dussault described screening for congenital hypothyroidism (CH) [2], and since then other disorders covered in some screening programmes have included congenital adrenal hyperplasia, the galactosaemias, cystic fibrosis, biotinidase deficiency, glucose-6-phosphate dehydrogenase deficiency and many others.

Original languageEnglish (US)
Title of host publicationInborn Metabolic Diseases
Subtitle of host publicationDiagnosis and Treatment
PublisherSpringer Berlin Heidelberg
Number of pages12
ISBN (Electronic)9783642157202
ISBN (Print)9783642157196
StatePublished - Jan 1 2012

ASJC Scopus subject areas

  • Medicine(all)


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