Comparative Effectiveness Review 56: Adjuvant Treatment for Phenylketonuria (PKU)
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Adjuvant Treatment for Phenylketonuria (PKU) Executive Summary
Etiology Phenylketonuria (PKU) is a metabolic disorder in which an inability to properly metabolize the amino acid phenylalanine (Phe) leads to a buildup of Phe in the blood, causing neurotoxicity and resulting in intellectual disability, delayed speech, seizures, and behavior abnormalities. Individuals with PKU are also susceptible to other adverse outcomes, including impaired executive functi...
متن کاملFuture treatment strategies in phenylketonuria.
Phenylketonuria (PKU) was the first inherited metabolic disease in which treatment was found to prevent clinical features of the disorder; dietary management was established almost 60 years ago. The institution of a low-phenylalanine (Phe) diet in the first few weeks of life was made possible by Guthrie neonatal screening, which further increased effectiveness of therapy. Indeed, neonatal diagn...
متن کاملNeonatal screening for phenylketonuria.
The case histories are reported of three patients with phenylketonuria (PKU) in whom the initial Guthrie screening for PKU was falsely negative. Possible explanations for this problem are reviewed, as well as the limited cost-effectiveness of general re-testing. Guidelines are suggested to im prove the sensitivity of PKU screening procedures for newborns.
متن کاملAdult issues in phenylketonuria.
Phenylketonuria (PKU) is a classical example of an inherited metabolic disease, in which mental retardation can be prevented successfully by using a diet. However, in adult PKU new problems occur, such as vitamin deficiencies, osteoporosis and the maternal PKU syndrome. The aim of this review article is to provide guidelines for the clinician to understand and manage PKU in adults.
متن کاملA Systematic Review of BH4 (Sapropterin) for the Adjuvant Treatment of Phenylketonuria.
CONTEXT Dietary management is the mainstay of effective treatment in PKU, but dietary restriction is difficult and additional treatment options are needed. OBJECTIVE To systematically review evidence regarding sapropterin (BH4) use as an adjunct to dietary restriction in individuals with PKU. DATA SOURCES Five databases including MEDLINE up to August 2011. STUDY SELECTION Two reviewers in...
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