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Antenatal and Neonatal Screening$
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Nicholas Wald and Ian Leck

Print publication date: 2000

Print ISBN-13: 9780192628268

Published to Oxford Scholarship Online: September 2009

DOI: 10.1093/acprof:oso/9780192628268.001.0001

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PRINTED FROM OXFORD SCHOLARSHIP ONLINE (oxford.universitypressscholarship.com). (c) Copyright Oxford University Press, 2021. All Rights Reserved. An individual user may print out a PDF of a single chapter of a monograph in OSO for personal use. date: 13 June 2021

Phenylketonuria and other inherited metabolic defects

Phenylketonuria and other inherited metabolic defects

Chapter:
(p.353) 14 Phenylketonuria and other inherited metabolic defects
Source:
Antenatal and Neonatal Screening
Author(s):

George C. Cunningham

Publisher:
Oxford University Press
DOI:10.1093/acprof:oso/9780192628268.003.0014

This chapter deals mainly with screening and diagnosis for phenylketonuria (PKU), but comments briefly on other inherited metabolic defects for which screening has been proposed. PKU is a disorder of amino acid metabolism due to failure of phenylalanine hydroxylation, which almost always results in severe mental retardation and retarded growth. Screening followed by treatment is effective in preventing these effects.

Keywords:   neonatal screening, neonatal diagnosis, metabolic defects, phenylketonuria, amino acid metabolism

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