Chapter

<i>Phenylketonuria and other inherited metabolic defects</i>

George C. Cunningham

in Antenatal and Neonatal Screening

Second edition

Published in print November 2000 | ISBN: 9780192628268
Published online September 2009 | e-ISBN: 9780191723605 | DOI: http://dx.doi.org/10.1093/acprof:oso/9780192628268.003.0014
Phenylketonuria and other inherited metabolic defects

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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

Chapter.  6970 words.  Illustrated.

Subjects: Public Health and Epidemiology

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