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Phenylketonuria

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2. Phenylketonuria

Phenylketonuria Phenylketonuria - Symptoms, diagnosis and treatment | BMJ Best Practice You'll need a subscription to access all of BMJ Best Practice Search  Phenylketonuria Last reviewed: February 2019 Last updated: September 2018 Summary A rare inborn error of metabolism associated with elevated blood phenylalanine. Clinical features in the untreated patient include intellectual disability, defects in executive functioning, seizures, and eczema. Caused by a deficiency of hepatic (...) for most patients involves restriction of dietary protein and phenylalanine, and supplementation with phenylalanine-free amino acid mixtures. Tetrahydrobiopterin (BH4)-responsive patients may also be treated with sapropterin. Definition Phenylketonuria (PKU) is an autosomal-recessive inborn error of amino acid metabolism characterised by elevated (typically >605 micromol/L [10 mg/dL]) blood phenylalanine (phe), which, if untreated, results in intellectual disability, seizures, and eczema. Patients

2018 BMJ Best Practice

3. Phenylketonuria

Phenylketonuria Phenylketonuria - Symptoms, diagnosis and treatment | BMJ Best Practice You'll need a subscription to access all of BMJ Best Practice Search  Phenylketonuria Last reviewed: February 2019 Last updated: September 2018 Summary A rare inborn error of metabolism associated with elevated blood phenylalanine. Clinical features in the untreated patient include intellectual disability, defects in executive functioning, seizures, and eczema. Caused by a deficiency of hepatic (...) for most patients involves restriction of dietary protein and phenylalanine, and supplementation with phenylalanine-free amino acid mixtures. Tetrahydrobiopterin (BH4)-responsive patients may also be treated with sapropterin. Definition Phenylketonuria (PKU) is an autosomal-recessive inborn error of amino acid metabolism characterised by elevated (typically >605 micromol/L [10 mg/dL]) blood phenylalanine (phe), which, if untreated, results in intellectual disability, seizures, and eczema. Patients

2018 BMJ Best Practice

4. Pegvaliase for the treatment of hyperphenylalaninaemia in adults with phenylketonuria - first line

Pegvaliase for the treatment of hyperphenylalaninaemia in adults with phenylketonuria - first line Pegvaliase for the treatment of hyperphenylalaninaemia in adults with phenylketonuria – first line Pegvaliase for the treatment of hyperphenylalaninaemia in adults with phenylketonuria – first line NIHR HSRIC Record Status This is a bibliographic record of a published health technology assessment. No evaluation of the quality of this assessment has been made for the HTA database. Citation NIHR (...) HSRIC. Pegvaliase for the treatment of hyperphenylalaninaemia in adults with phenylketonuria – first line. Birmingham: NIHR Horizon Scanning Research&Intelligence Centre. Horizon Scanning Review. 2016 Authors' conclusions Phenylketonuria (PKU) is an inherited disorder of protein metabolism that causes a problem with the phenylalanine hydroxylase enzyme. This enzyme is responsible for breaking down the amino acid phenylalanine, a chemical in protein from food, so that in PKU the amount

2016 Health Technology Assessment (HTA) Database.

5. Long-term dietary intervention with low Phe and/or a specific nutrient combination improve certain aspects of brain functioning in phenylketonuria (PKU). (PubMed)

Long-term dietary intervention with low Phe and/or a specific nutrient combination improve certain aspects of brain functioning in phenylketonuria (PKU). In phenylketonuria (PKU), a gene mutation in the phenylalanine metabolic pathway causes accumulation of phenylalanine (Phe) in blood and brain. Although early introduction of a Phe-restricted diet can prevent severe symptoms from developing, patients who are diagnosed and treated early still experience deficits in cognitive functioning

2019 PLoS ONE

6. Genotypes of 2579 patients with phenylketonuria reveal a high rate of BH4 non-responders in Russia. (PubMed)

Genotypes of 2579 patients with phenylketonuria reveal a high rate of BH4 non-responders in Russia. Phenylalanine hydroxylase (PAH) deficiency is responsible for most cases of phenylketonuria (PKU). Furthermore, numerous studies on BH4-sensitive PAH deficiency have been conducted. To date, BH4, a cofactor of PAH, has not been used to treat PKU in Russia.Genotype data of patients with PKU can be used to predict their sensitivity to BH4 therapy. A cohort of 2579 patients with PKU from Russia

2019 PLoS ONE

7. Protein substitute for children and adults with phenylketonuria. (PubMed)

Protein substitute for children and adults with phenylketonuria. Phenylketonuria is an inherited metabolic disorder characterised by an absence or deficiency of the enzyme phenylalanine hydroxylase. The aim of treatment is to lower blood phenylalanine concentrations to the recommended therapeutic range to prevent developmental delay and support normal growth. Current treatment consists of a low-phenylalanine diet in combination with a protein substitute which is free from or low (...) in phenylalanine. Guidance regarding the use, dosage, and distribution of dosage of the protein substitute over a 24-hour period is unclear, and there is variation in recommendations among treatment centres. This is an update of a Cochrane review first published in 2005, and previously updated in 2008.To assess the benefits and adverse effects of protein substitute, its dosage, and distribution of dose in children and adults with phenylketonuria who are adhering to a low-phenylalanine diet.We searched

2015 Cochrane

8. Sapropterin dihydrochloride for phenylketonuria. (PubMed)

Sapropterin dihydrochloride for phenylketonuria. Phenylketonuria results from a deficiency of the enzyme phenylalanine hydroxylase. Dietary restriction of phenylalanine keeps blood phenylalanine concentration low. Most natural foods are excluded from diet and supplements are used to supply other nutrients. Recent publications report a decrease in blood phenylalanine concentration in some patients treated with sapropterin dihydrochloride. We examined the evidence for the use of sapropterin (...) dihydrochloride to treat phenylketonuria. This is an update of a previously published Cochrane Review. To assess the safety and efficacy of sapropterin dihydrochloride in lowering blood phenylalanine concentration in people with phenylketonuria.We identified relevant trials from the Group's Inborn Errors of Metabolism Trials Register. Date of last search: 11 August 2014.We also searched ClinicalTrials.gov and Current controlled trials. Last search: 4 September 2014We contacted the manufacturers of the drug

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2015 Cochrane

9. Phenylalanine tolerance over time in phenylketonuria: a systematic review

Phenylalanine tolerance over time in phenylketonuria: a systematic review Print | PDF PROSPERO This information has been provided by the named contact for this review. CRD has accepted this information in good faith and registered the review in PROSPERO. The registrant confirms that the information supplied for this submission is accurate and complete. CRD bears no responsibility or liability for the content of this registration record, any associated files or external websites. Email

2019 PROSPERO

10. Effects of polyunsaturated fatty acid (PUFAs) supplementation in patients with phenylketonuria: A systematic review of controlled trials

Effects of polyunsaturated fatty acid (PUFAs) supplementation in patients with phenylketonuria: A systematic review of controlled trials Print | PDF PROSPERO This information has been provided by the named contact for this review. CRD has accepted this information in good faith and registered the review in PROSPERO. The registrant confirms that the information supplied for this submission is accurate and complete. CRD bears no responsibility or liability for the content of this registration

2019 PROSPERO

11. New Treatment for Phenylketonuria (PKU) Clears Brain Fog

New Treatment for Phenylketonuria (PKU) Clears Brain Fog New Treatment for Phenylketonuria (PKU) Clears Brain Fog | PLOS Blogs Network PLOS Blogs Staff Blogs Blogs by Topic Biology & Life Sciences Earth & Environmental Sciences Multi-disciplinary Sciences Medicine & Health Research Analysis & Scientific Policy Diverse perspectives on science and medicine Staff Blogs Blogs by Topic Biology & Life Sciences Earth & Environmental Sciences Multi-disciplinary Sciences Medicine & Health Research (...) distraught, recognizing his limitations in a way that he didn’t before the surgery. Dan Peterson is about Charlie’s age, and he, too, has recently experienced a new clarity of thinking thanks to a treatment. In Dan’s case it’s an enzyme substitution therapy called which he injects under his skin daily. FDA approved it on May 24 to treat phenylketonuria ( ). But unlike Charlie’s brief experience, Dan’s treatment should last. Awakenings In PKU, deficiency of an enzyme (phenylalanine hydroxylase) leads

2018 PLOS Blogs Network

12. Pegvaliase-pqpz (Palynziq) - To treat adults with a rare and serious genetic disease known as phenylketonuria (PKU)

Pegvaliase-pqpz (Palynziq) - To treat adults with a rare and serious genetic disease known as phenylketonuria (PKU) Drug Approval Package: PALYNZIQ (pegvaliase-pqpz) U.S. Department of Health and Human Services Search FDA Submit search Drug Approval Package: PALYNZIQ (pegvaliase-pqpz) Company: BioMarin Pharmaceutical Inc. Application Number: 761079 Approval Date: 05/24/2018 Persons with disabilities having problems accessing the PDF files below may call (301) 796-3634 for assistance. FDA

2018 FDA - Drug Approval Package

13. Phenylketonuria incidence in China between 2013 and 2017 based on data from the Chinese newborn screening information system: a descriptive study. (PubMed)

Phenylketonuria incidence in China between 2013 and 2017 based on data from the Chinese newborn screening information system: a descriptive study. This study examines the incidence and spatial clustering of phenylketonuria (PKU) in China between 2013 and 2017.Data from the Chinese Newborn Screening Information System were analysed to assess PKU incidence with 95% CIs by province, region and disease severity. Spatial clustering of PKU cases was analysed using global and local spatial

2019 BMJ open

14. Predictability and inconsistencies of cognitive outcome in patients with phenylketonuria and personalised therapy: the challenge for the future guidelines. (PubMed)

Predictability and inconsistencies of cognitive outcome in patients with phenylketonuria and personalised therapy: the challenge for the future guidelines. Phenylketonuria (PKU) is a prototypical model of a neurodevelopmental metabolic disease that follows a cascade of pathological events affecting brain maturation and functioning. Neonatal screening and early treatment have eradicated the classical PKU phenotype in patients with early and continuously treated phenylketonuria (ECTPKU). However

2019 Journal of Medical Genetics

15. Phenylalanine hydroxylase (PAH) deficiency (including phenylketonuria [PKU])

Phenylalanine hydroxylase (PAH) deficiency (including phenylketonuria [PKU]) Phenylalanine hydroxylase (PAH) deficiency (including phenylketonuria [PKU]) Phenylalanine hydroxylase (PAH) deficiency (including phenylketonuria [PKU]) Record Status This is a bibliographic record of a published health technology assessment. No evaluation of the quality of this assessment has been made for the HTA database. Citation Phenylalanine hydroxylase (PAH) deficiency (including phenylketonuria [PKU]) Lansdale (...) phenylketonuria (PKU), moderate PKU, mild PKU, or mild HPA. Untreated, PKU is associated with intellectual disability, behavior problems, seizures, and other neurological dysfunction. In addition, pregnant women with PKU are at risk of having a child with multiple congenital anomalies, as a result of the negative effects of excess Phe on embryonic development. Consequently, classic, moderate, and mild PKU require treatment in the form of a Phe-restricted diet and amino acid supplementation with a Phe-free

2014 Health Technology Assessment (HTA) Database.

16. Challenges of Implementation of the National Phenylketonuria Screening Program in Iran: A Qualitative Study (PubMed)

Challenges of Implementation of the National Phenylketonuria Screening Program in Iran: A Qualitative Study Newborn screening (NBS) is a public health measure aimed at identification of early cases, management of afflicted infants, and making efforts to reduce the morbidity and mortality among newborns. All countries may face challenges in implementation of screening programs. The present study aimed to determine the challenges of implementation of the National Phenylketonuria (PKU) Screening

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2016 Electronic physician

17. Formulation and PEGylation optimization of the therapeutic PEGylated phenylalanine ammonia lyase for the treatment of phenylketonuria. (PubMed)

Formulation and PEGylation optimization of the therapeutic PEGylated phenylalanine ammonia lyase for the treatment of phenylketonuria. Phenylketonuria (PKU) is a genetic metabolic disease in which the decrease or loss of phenylalanine hydroxylase (PAH) activity results in elevated, neurotoxic levels of phenylalanine (Phe). Due to many obstacles, PAH enzyme replacement therapy is not currently an option. Treatment of PKU with an alternative enzyme, phenylalanine ammonia lyase (PAL), was first

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2017 PLoS ONE

18. Management of Women With Phenylketonuria

Management of Women With Phenylketonuria Management of Women With Phenylketonuria - ACOG Menu ▼ Management of Women With Phenylketonuria Page Navigation ▼ Number 636, June 2015 (Replaces Committee Opinion Number 449, December 2009) Reaffirmed 2017 Committee on Genetics This document reflects emerging clinical and scientific advances as of the date issued and is subject to change. This information should not be construed as dictating an exclusive course of treatment or procedure to be followed (...) . Management of Women With Phenylketonuria ABSTRACT: Phenylketonuria (PKU) is an autosomal recessive disorder of phenylalanine (Phe) metabolism characterized by deficient activity of the hepatic enzyme, phenylalanine hydroxylase. Increased blood Phe levels are toxic to a variety of tissues, particularly the developing fetal brain. The mainstay of treatment for PKU is the dietary restriction of Phe, which results in decreased blood Phe levels. Lifelong dietary restriction and therapy improves quality

2015 American College of Obstetricians and Gynecologists

19. Pegvaliase for the treatment of phenylketonuria: A pivotal, double-blind randomized discontinuation Phase 3 clinical trial. (PubMed)

Pegvaliase for the treatment of phenylketonuria: A pivotal, double-blind randomized discontinuation Phase 3 clinical trial. Pegvaliase is a recombinant Anabaena variabilis phenylalanine ammonia lyase (PAL) enzyme under investigation for treatment of adult phenylketonuria (PKU). This manuscript describes results of a randomized discontinuation trial (RDT) designed to evaluate the effects of pegvaliase treatment on blood phenylalanine (Phe) and neuropsychiatric outcomes in adults with PKU.PRISM-2

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2018 Molecular genetics and metabolism

20. Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM). (PubMed)

Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM). Phenylketonuria (PKU) is caused by phenylalanine hydroxylase (PAH) deficiency that results in phenylalanine (Phe) accumulation. Pegvaliase, PEGylated recombinant Anabaena variabilis phenylalanine ammonia lyase (PAL), converts Phe to trans-cinnamic acid and ammonia, and is a potential enzyme substitution therapy to lower blood Phe in adults with PKU.Two Phase 3 studies, PRISM-1

2018 Molecular genetics and metabolism

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