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Sapropterin dihydrochloride for phenylketonuria and tetrahydrobiopterin deficiency


Blau, N (2010). Sapropterin dihydrochloride for phenylketonuria and tetrahydrobiopterin deficiency. Expert Review of Endocrinology & Metabolism, 5(4):483-494.

Abstract

Sapropterin dihydrochloride is the first registered synthetic form of the naturally occurring cofactor and cosubstrate, tetrahydrobiopterin (BH4). It is essential for the conversion of phenylalanine (Phe) by phenylalanine-4-hydroxylase (PAH) to tyrosine. BH4 is also the co-factor of rate-limiting enzymes involved in the synthesis of monoamine neurotransmitters. Phenylketonuria (PKU) is an inherited disorder of PAH, characterized by elevated Phe concentrations (hyperphenylalaninemia) in the blood and brain, with toxic neurological consequences. Sapropterin dihydrochloride is approved for treating patients (of all ages in the USA and >4 years old in Europe) with PKU who are BH4 responsive, and those with BH4 deficiency (Europe). It decreases blood Phe concentration and increases dietary Phe tolerance in some patients with PKU on a low-Phe diet, allowing dietary adjustment or even discontinuation of a low-Phe diet. This article reviews sapropterin dihydrochloride for the management of PKU – aimed at improving clinical outcomes and quality of life – and it considers the potential for incorporating such information into international consensus guidelines.

Sapropterin dihydrochloride is the first registered synthetic form of the naturally occurring cofactor and cosubstrate, tetrahydrobiopterin (BH4). It is essential for the conversion of phenylalanine (Phe) by phenylalanine-4-hydroxylase (PAH) to tyrosine. BH4 is also the co-factor of rate-limiting enzymes involved in the synthesis of monoamine neurotransmitters. Phenylketonuria (PKU) is an inherited disorder of PAH, characterized by elevated Phe concentrations (hyperphenylalaninemia) in the blood and brain, with toxic neurological consequences. Sapropterin dihydrochloride is approved for treating patients (of all ages in the USA and >4 years old in Europe) with PKU who are BH4 responsive, and those with BH4 deficiency (Europe). It decreases blood Phe concentration and increases dietary Phe tolerance in some patients with PKU on a low-Phe diet, allowing dietary adjustment or even discontinuation of a low-Phe diet. This article reviews sapropterin dihydrochloride for the management of PKU – aimed at improving clinical outcomes and quality of life – and it considers the potential for incorporating such information into international consensus guidelines.

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Additional indexing

Item Type:Journal Article, refereed, further contribution
Communities & Collections:04 Faculty of Medicine > Center for Integrative Human Physiology
04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Language:English
Date:July 2010
Deposited On:12 Nov 2010 13:43
Last Modified:05 Apr 2016 14:15
Publisher:Expert Reviews Ltd
ISSN:1744-6651
Publisher DOI:https://doi.org/10.1586/EEM.10.39
Permanent URL: https://doi.org/10.5167/uzh-36072

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