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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. 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

6. 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

7. 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

8. 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

9. 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.

10. 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

11. 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

12. 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

13. 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

14. 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

15. Analysis of the genotype-phenotype correlation in patients with phenylketonuria in mainland China (PubMed)

Analysis of the genotype-phenotype correlation in patients with phenylketonuria in mainland China Mutations in the gene encoding phenylalanine hydroxylase (PAH) are associated with various degrees of phenylketonuria (PKU). The aim of our study was to define the genotype-phenotype correlations of mutations in the PAH gene that cause phenylketonuria (PKU) among the Chinese mainland population. Mutations in the PAH gene were analysed by next-generation sequencing, and a genotype-phenotype

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2018 Scientific reports

16. Subacute onset leukodystrophy and visual-spatial disorders revealing phenylketonuria combined with homocysteinmia in adulthood: A case report. (PubMed)

Subacute onset leukodystrophy and visual-spatial disorders revealing phenylketonuria combined with homocysteinmia in adulthood: A case report. Phenylketonuria (PKU) is a metabolic disorder, which manifests a progressive irreversible neurological impairment during infancy and childhood. Hyperhomocysteinemia also showed that it might be involved in pathophysiology of many neuropsychiatric disorders. The late-onset clinical manifestations of these 2 diseases have not been reported elsewhere. We

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2018 Medicine

17. Non-invasive prenatal testing of pregnancies at risk for phenylketonuria. (PubMed)

Non-invasive prenatal testing of pregnancies at risk for phenylketonuria. Phenylketonuria (PKU) is a common metabolic disorder caused predominately by mutations in the phenylalanine hydroxylase (PAH) gene. The aim of the study was to design and validate the performance of a non-invasive prenatal test (NIPT) for PKU using circulating single molecule amplification and resequencing technology (cSMART).A total of 18 couples at genetic risk for having a child with PKU were recruited to the study

2018 Archives of Disease in Childhood. Fetal and Neonatal Edition

18. Newly validated biomarkers of brain damage may shed light into the role of oxidative stress in the pathophysiology of neurocognitive impairment in dietary restricted phenylketonuria patients. (PubMed)

Newly validated biomarkers of brain damage may shed light into the role of oxidative stress in the pathophysiology of neurocognitive impairment in dietary restricted phenylketonuria patients. Despite a strict dietary control, patient with hyperphenylalaninemia or phenylketonuria may show cognitive and/or behavioral disorders. These comorbid deficits are of great concern to patients, families, and health organizations. However, biomarkers capable of detecting initial stages of neurological (...) damage are not commonly employed. The pathogenesis of phenylketonuria is complex in nature. Increasingly, the role of oxidative stress has gained acceptance and biomarkers reflecting oxidative damage to the brain and easily accessible in peripheral biofluids have been validated using mass spectrometry techniques. In the present review, the role of oxidative stress in the pathogenesis of phenylketonuria and hyperphenylalaninemia has been updated. Moreover, we report on newly validated brain-specific

2018 Pediatric Research

19. Metabolomic Markers of Essential Fatty Acids, Carnitine, and Cholesterol Metabolism in Adults and Adolescents with Phenylketonuria. (PubMed)

Metabolomic Markers of Essential Fatty Acids, Carnitine, and Cholesterol Metabolism in Adults and Adolescents with Phenylketonuria. Individuals with phenylketonuria (PKU) have a risk of cognitive impairment and inflammation. Many follow a low-phenylalanine (low-Phe) diet devoid of animal protein in combination with medical foods (MFs).To assess lipid metabolism in participants with PKU consuming amino acid MFs (AA-MFs) or glycomacropeptide MFs (GMP-MFs), we conducted fatty acid and metabolomics

2018 Journal of Nutrition

20. Correction to: Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China. (PubMed)

Correction to: Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China. Following publication of the original article [1], the authors reported an error in Table 3 on page 4. Variant No. 18 should be " p.Ser339Phe c.1016C>T " (as given in Number 117 of Additional file 2).

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2018 BMC Medical Genetics

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