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01-12-2010 | Editorial

Advances and challenges in phenylketonuria

Authors: Cary O. Harding, Nenad Blau

Published in: Journal of Inherited Metabolic Disease | Issue 6/2010

Excerpt

Phenylketonuria (PKU; OMIM 262600), one of the most common inborn errors of metabolism, is caused by recessively inherited deficiency of the enzyme phenylalanine hydroxylase (PAH; EC 1.14.16.1) (Blau et al. 2010). PAH catalyses the irreversible hydroxylation of phenylalanine (Phe) to tyrosine. PAH is expressed primarily in the liver but also in the kidney and pancreas, and its activity requires the unconjugated pterin co-factor, tetrahydrobiopterin (BH₄). PAH deficiency causes hyperphenylalaninaemia, but hyperphenylalaninaemia can also be caused by inherited deficiency of enzymes involved in BH₄ synthesis or recycling (Blau et al. 2010). Chronic, untreated, severe hyperphenylalaninaemia in infants and children leads to seizures and mental retardation. Newborn screening and early initiation of PKU therapy has eliminated the major manifestations of the disease, but shortcomings in our current therapeutic approach remain. …

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Title: Advances and challenges in phenylketonuria
Authors: Cary O. Harding
Nenad Blau
Publication date: 01-12-2010
Publisher: Springer Netherlands
Published in: Journal of Inherited Metabolic Disease / Issue 6/2010
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-010-9247-7

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