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Title: Clinical therapeutics for phenylketonuria
Authors: Kochhar, J.S.
Chan, S.Y. 
Ong, P.S. 
Kang, L. 
Keywords: Hyperphenylalaninemia
Phenylalanine ammonia lyase
Phenylalanine hydroxylase
Issue Date: Aug-2012
Citation: Kochhar, J.S., Chan, S.Y., Ong, P.S., Kang, L. (2012-08). Clinical therapeutics for phenylketonuria. Drug Delivery and Translational Research 2 (4) : 223-237. ScholarBank@NUS Repository.
Abstract: Phenylketonuria was amongst the first of the metabolic disorders to be characterised, exhibiting an inborn error in phenylalanine metabolism due to a functional deficit of the enzyme phenylalanine hydroxylase. It affects around 700,000 people around the globe. Mutations in the gene coding for hepatic phenylalanine hydroxylase cause this deficiency resulting in elevated plasma phenylalanine concentrations, leading to cognitive impairment, neuromotor disorders and related behavioural symptoms. Inception of low phenylalanine diet in the 1950s marked a revolution in the management of phenylketonuria and has since been a vital element of all therapeutic regimens. However, compliance to dietary therapy has been found difficult and newer supplement approaches are being examined. The current development of gene therapy and enzyme replacement therapeutics may offer promising alternatives for the management of phenylketonuria. This review outlines the pathological basis of phenylketonuria, various treatment regimes, their associated challenges and the future prospects of each approach. Briefly, novel drug delivery systems which can potentially deliver therapeutic strategies in phenylketonuria have been discussed. © 2012 Controlled Release Society.
Source Title: Drug Delivery and Translational Research
ISSN: 2190393X
DOI: 10.1007/s13346-012-0067-1
Appears in Collections:Staff Publications

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