8,057 results match your criteria Phenylketonuria


Special Low Protein Foods in the UK: An Examination of Their Macronutrient Composition in Comparison to Regular Foods.

Nutrients 2020 Jun 25;12(6). Epub 2020 Jun 25.

Birmingham Women's and Children's NHS Foundation Trust, Steelhouse Lane, Birmingham B4 6NH, UK.

Special low protein foods (SLPFs) are essential in a low phenylalanine diet for treating phenylketonuria (PKU). With little known about their nutritional composition, all SLPFs on UK prescription were studied ( = 146) and compared to equivalent protein-containing foods ( = 190). SLPF nutritional analysis was obtained from suppliers/manufacturers. Read More

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http://dx.doi.org/10.3390/nu12061893DOI Listing

Self-estimation of phenylketonuria patients on therapeutic diet. Psychological support.

Drug Metab Pers Ther 2020 Jun 30. Epub 2020 Jun 30.

Institute of Child Health Athens, Inborn error of metabolism, Athens, Attiki, Greece.

Objectives Self-esteem is the degree to which the qualities and characteristics contained in one's self-concept are perceived to be positive. The aim of this study was to evaluate the self-esteem scores in phenylketonuria (PKU) patients on "strict", "loos" and "off diet". Sixty PKU patients were divided in three equal groups. Read More

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http://dx.doi.org/10.1515/dmdi-2020-0107DOI Listing

PKU dietary handbook to accompany PKU guidelines.

Orphanet J Rare Dis 2020 Jun 30;15(1):171. Epub 2020 Jun 30.

Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, Hanzeplein 1, 9700, RB, Groningen, The Netherlands.

Background: Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine.

Main Body: In 2017 the first European PKU Guidelines were published. These guidelines contained evidence based and/or expert opinion recommendations regarding diagnosis, treatment and care for patients with PKU of all ages. Read More

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http://dx.doi.org/10.1186/s13023-020-01391-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7329487PMC

Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia. A 6-year study.

Saudi Med J 2020 Jul;41(7):703-708

Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia. E-mail.

Objectives: To determine the incidence of newborn screening (NBS) disorders and to study the key performance indicators of the program.

Methods: This retrospective single-center study enrolled all infants who underwent NBS from January 2012 to December 2017 at Prince Sultan Military Medical City, Riyadh, Saudi Arabia. We screened 17 NBS disorders. Read More

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http://dx.doi.org/10.15537/smj.2020.7.25147DOI Listing

Aspartame and Phe-Containing Degradation Products in Soft Drinks across Europe.

Nutrients 2020 Jun 24;12(6). Epub 2020 Jun 24.

Laboratory of Metabolic Diseases, University Medical Center Groningen, University of Groningen, P.O. Box 30.001, 9700 RB Groningen, The Netherlands.

Phenylketonuria and tyrosinemia type 1 are treated with dietary phenylalanine (Phe) restriction. Aspartame is a Phe-containing synthetic sweetener used in many products, including many 'regular' soft drinks. Its amount is (often) not declared; therefore, patients are advised not to consume aspartame-containing foods. Read More

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http://dx.doi.org/10.3390/nu12061887DOI Listing

Pegvaliase for the treatment of phenylketonuria: Results of the phase 2 dose-finding studies with long-term follow-up.

Mol Genet Metab 2020 Jun 16. Epub 2020 Jun 16.

Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine, 12605 E 16th St, Aurora, CO 80045, United States of America. Electronic address:

Background: Phenylketonuria (PKU) is characterized by a deficiency in phenylalanine hydroxylase (PAH) that may lead to elevated blood phenylalanine (Phe) and significant neurocognitive and neuropsychological comorbidities. Pegvaliase (PALYNZIQ®, BioMarin Pharmaceutical Inc.) is a PEGylated recombinant Anabaena variabilis phenylalanine ammonia lyase (PAL), which converts Phe to trans-cinnamic acid and ammonia, and was approved in May 2018 in the United States and in May 2019 in the European Union for decreasing blood Phe levels in adults with PKU with blood Phe levels >600 μmol/L. Read More

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http://dx.doi.org/10.1016/j.ymgme.2020.06.006DOI Listing

Retinal nerve fibre layer thickness associates with phenylketonuria control and cognition.

J Med Genet 2020 Jun 26. Epub 2020 Jun 26.

Department of Pediatric Gastroenterology and Metabolic Diseases, Poznan University of Medical Sciences, Poznan, Poland.

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http://dx.doi.org/10.1136/jmedgenet-2019-106770DOI Listing

Correction to: Impact of phenylalanine on cognitive, cerebral, and neurometabolic parameters in adult patients with phenylketonuria (the PICO study): a randomized, placebo-controlled, crossover, noninferiority trial.

Trials 2020 Jun 22;21(1):561. Epub 2020 Jun 22.

Department of Diabetes, Endocrinology, Nutritional Medicine and Metabolism, Inselspital, Bern University Hospital and University of Bern, Bern, Switzerland.

An amendment to this paper has been published and can be accessed via the original article. Read More

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http://dx.doi.org/10.1186/s13063-020-04489-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7310544PMC

Vitamin K Status in Adherent and Non-Adherent Patients with Phenylketonuria: A Cross-Sectional Study.

Nutrients 2020 Jun 14;12(6). Epub 2020 Jun 14.

Department of Pediatric Gastroenterology and Metabolic Diseases, Poznan University of Medical Sciences, Szpitalna Street 27/33, 60-572 Poznan, Poland.

This is the first study to evaluate vitamin K status in relation to dietary intake and phenylalanine dietary compliance in patients with phenylketonuria (PKU). The dietary and PKU formula intake of vitamin K was calculated in 34 PKU patients, with vitamin K status determined by the measurement of prothrombin induced by vitamin K absence (PIVKA-II). Blood phenylalanine concentrations in the preceding 12 months were considered. Read More

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http://dx.doi.org/10.3390/nu12061772DOI Listing

[Dietary treatment of inborn errors of metabolism-a balancing act between indulgence and therapy].

Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz 2020 Jul;63(7):864-871

Abteilung für angeborene Stoffwechselerkrankungen, Kinderklinik und Kinderpoliklinik im Dr. von Haunerschen Kinderspital der LMU München, Lindwurmstr. 4, 80337, München, Deutschland.

For many inborn metabolic diseases, a lifelong diet is a crucial part of the therapy since pharmacological therapy is available for only a few conditions and patients. The implementation of a low natural protein diet with a reduced intake of natural protein and the complementary use of synthetic amino acid mixtures is described using the examples of phenylketonuria and urea cycle disorders focusing on children and adolescents. For phenylketonuria, the amino acid supplement is free of phenylalanine whereas for urea cycle disorders, it exclusively consists of essential amino acids. Read More

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http://dx.doi.org/10.1007/s00103-020-03168-xDOI Listing

Biomedical applications of yeasts - a patent view, part two: era of humanized yeasts and expanded applications.

Expert Opin Ther Pat 2020 Jun 30:1-23. Epub 2020 Jun 30.

; Universite de Versailles, Service de ne 'phrologie-transplantation re'nale, Hopital Foch, 40 rue Worth, Suresnes , Paris, France.

Introduction: Yeast humanization, ranging from a simple point mutation to substitution of yeast gene(s) or even a complete pathway by human counterparts has enormously expanded yeast biomedical applications.

Areas Covered: General and patent-oriented insights into the application of native and humanized yeasts for production of human glycoproteins (gps) and antibodies (Abs), toxicity/mutagenicity assays, treatments of gastrointestinal (GI) disorders and potential drug delivery as a probiotic (with emphasis on ) and studies on human diseases/cancers and screening effective drugs.

Expert Opinion: Humanized yeasts cover the classical advantageous features of a 'microbial eukaryote' together with advanced human cellular processes. Read More

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http://dx.doi.org/10.1080/13543776.2020.1781816DOI Listing
June 2020
4.297 Impact Factor

Prospects for Cell-Directed Curative Therapy of Phenylketonuria (PKU).

Authors:
Cary O Harding

Mol Front J 2019 Dec 12;3(2):110-121. Epub 2019 Dec 12.

Department of Molecular and Medical Genetics, Oregon Health & Science University, Mailstop L-103, 3181 Sam Jackson Park Rd., Portland, OR 97239, USA.

Phenylketonuria (PKU) due to recessively inherited phenylalanine hydroxylase (PAH) deficiency is among the most common inborn errors of metabolism. Dietary therapy begun early in infancy prevents the major manifestations of the disease but shortcomings to treatment continue to exist including lifelong commitment to a complicated and unpalatable diet, poor adherence to diet in adolescence and adulthood, and consequently a range of unsatisfactory outcomes, including neuropsychiatric disorders, frequently develop. Novel treatments that do not strictly depend upon dietary protein restriction are actively sought. Read More

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http://dx.doi.org/10.1142/s2529732519400145DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7286632PMC
December 2019

Anthropometry and bone mineral density in treated and untreated hyperphenylalaninemia.

Endocr Connect 2020 Jun 1. Epub 2020 Jun 1.

M Avbelj Stefanija, Dept. of pediatric endocrinology, diabetes and metabolic diseases, University Medical Centre Ljubljana, Ljubljana, Slovenia.

Despite recent improvements in the composition of the diet, lower mineral bone density and overweight tendencies are incoherently described in patients with phenylketonuria (PKU). The impact of dietary factors and plasma phenylalanine levels on growth, body mass index, body composition, and bone mineral density was investigated in our cohort of patients with hyperphenylalaninemia (HPA) with or without dietary treatment. The anthropometric, metabolic, body mass index and other nutritional indicators and bone mineral density were compared between the group of 96 treated patients with PKU (58 classic PKU (cPKU) and 38 patients with moderate-mild PKU defined as non-classic PKU (non-cPKU)) and the untreated group of 62 patients with benign HPA. Read More

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http://dx.doi.org/10.1530/EC-20-0214DOI Listing

Laboratory Diagnosis of Lysosomal Diseases: Newborn Screening to Treatment.

Authors:
Maria Fuller

Clin Biochem Rev 2020 May;41(2):53-66

Genetics and Molecular Pathology, SA Pathology (Women's and Children's Hospital), North Adelaide, SA 5006; School of Medicine, University of Adelaide, Adelaide, SA 5005, Australia.

The goal of screening programs for inborn errors of metabolism (IEM) is early detection and timely intervention to significantly reduce morbidity, mortality and associated disabilities. Phenylketonuria exemplifies their success as neonates are identified at birth and then promptly treated allowing normal neurological development. Lysosomal diseases comprise about 50 IEM arising from a deficiency in a protein required for proper lysosomal function. Read More

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http://dx.doi.org/10.33176/AACB-19-00037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7255311PMC

Amino Acid Plasma Profiles from a Prolonged-Release Protein Substitute for Phenylketonuria: A Randomized, Single-Dose, Four-Way Crossover Trial in Healthy Volunteers.

Nutrients 2020 Jun 2;12(6). Epub 2020 Jun 2.

Dietetic Department, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham B4 6NH, UK.

Several disorders of amino acid (AA) metabolism are treated with a protein-restricted diet supplemented with specific AA mixtures. Delivery kinetics impacts AA absorption and plasma concentration profiles. We assessed plasma profiles after ingestion of an AA mixture engineered to prolong AA absorption with Physiomimic Technology (Test) in a randomized, single-dose, four-way crossover trial in healthy volunteers (Trial Registration: ISRCTN11016729). Read More

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http://dx.doi.org/10.3390/nu12061653DOI Listing
June 2020
3.148 Impact Factor

First 1.5 years of pegvaliase clinic: Experiences and outcomes.

Mol Genet Metab Rep 2020 Sep 25;24:100603. Epub 2020 May 25.

Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, United States of America.

We present Boston Children's Hospital's clinic model for pegvaliase therapy in adults with phenylketonuria (PKU) and clinical outcomes in 46 patients over the first 1.5 years of commercial therapy. Approximately 70% (18/26) of patients starting pegvaliase achieved blood phenylalanine (Phe) <360 μmol/L, with an average of a 68 ± 24% decrease in blood Phe from baseline. Read More

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http://dx.doi.org/10.1016/j.ymgmr.2020.100603DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7256053PMC
September 2020

Reply to Jakovac; Severity of COVID-19 infection in patients with phenylketonuria: is vitamin D status protective?

Am J Physiol Endocrinol Metab 2020 06;318(6):E890-E891

Department of Dietetics, Birmingham Children's Hospital, Birmingham, United Kingdom.

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http://dx.doi.org/10.1152/ajpendo.00195.2020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7276976PMC
June 2020
3.785 Impact Factor

Lipids and phenylketonuria: Current evidences pointed the need for lipidomics studies.

Arch Biochem Biophys 2020 Jul 24;688:108431. Epub 2020 May 24.

Mass Spectrometry Center, LAQV-REQUIMTE, Department of Chemistry, University of Aveiro, Campus Universitário de Santiago, 3810-193, Aveiro, Portugal; CICECO - Aveiro Institute of Materials, Department of Chemistry, University of Aveiro, Campus Universitário de Santiago, 3810-193, Aveiro, Portugal. Electronic address:

Phenylketonuria (PKU) is the most prevalent inborn error of amino acid metabolism. The disease is due to the deficiency of phenylalanine (Phe) hydroxylase activity, which causes the accumulation of Phe. Early diagnosis through neonatal screening is essential for early treatment implementation, avoiding cognitive impairment and other irreversible sequelae. Read More

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http://dx.doi.org/10.1016/j.abb.2020.108431DOI Listing
July 2020
3.017 Impact Factor

Saccadic reaction time and ocular findings in phenylketonuria.

Orphanet J Rare Dis 2020 May 25;15(1):124. Epub 2020 May 25.

Department of Ophthalmology, University Medical Center Mainz, Langenbeckstr 1, 55131, Mainz, Germany.

Background: Phenylketonuria (PKU) is an inherited metabolic disorder characterized by reduced activity of phenylalanine hydroxylase resulting in elevated blood phenylalanine (Phe) concentration. Despite some obvious ocular changes, the disorder has been poorly recognized by ophthalmologists. Neurophysiologic tests imply prolonged reaction time correlating with increased phenylalanine blood concentrations. Read More

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http://dx.doi.org/10.1186/s13023-020-01407-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7249436PMC

Body fat percentage in adolescents with phenylketonuria and associated factors.

Mol Genet Metab Rep 2020 Jun 12;23:100595. Epub 2020 May 12.

Associated research in Núcleo de Ações e Pesquisa em Apoio Diagnóstico (NUPAD), School of Medicine, Federal University of Minas Gerais (UFMG), Av. Prof. Alfredo Balena, 189, 30.130-100 Belo Horizonte, Brazil.

Objective: To evaluate the percentage of body fat (% BF) in adolescents with PKU and to relate it to protein consumption, physical activity level, body mass index (BMI), sexual maturity and metabolic control.

Method: This is a cross-sectional study conducted with 94 adolescents between 10 and 20 years of age, with early diagnosis and continuous treatment. Bioimpedance, weight measurements, height and BMI calculation were performed. Read More

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http://dx.doi.org/10.1016/j.ymgmr.2020.100595DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7225391PMC

Nutrient intake, body composition, and blood phenylalanine control in children with phenylketonuria compared to healthy controls.

Mol Genet Metab Rep 2020 Jun 11;23:100599. Epub 2020 May 11.

Departments Molecular and Medical Genetics, Graduate Programs in Human Nutrition at Oregon Health & Science University, Portland, OR, United States of America.

Background: Phenylketonuria (PKU) treatment consists of life-long protein restriction and Phe-free medical foods for adequate nutritional intake and growth. A relationship between body composition and blood phenylalanine (Phe) concentrations in subjects with PKU has been proposed but this has not been consistently reported.

Methods: Dietary intake, lean body mass (LBM) and fat mass (FM) were measured in 30 pediatric subjects with PKU compared to 30 age, and sex matched controls. Read More

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http://dx.doi.org/10.1016/j.ymgmr.2020.100599DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7218298PMC

Maternal PKU: Defining phenylalanine tolerance and its variation during pregnancy, according to genetic background.

Nutr Metab Cardiovasc Dis 2020 Jun 20;30(6):977-983. Epub 2020 Feb 20.

Unit of Metabolic Diseases and Clinical Dietetics - DIMEC, "Alma Mater" University, Bologna, Italy. Electronic address:

Background And Aims: Phenylketonuria (PKU)-affected women may become pregnant, and dietary phenylalanine (Phe) intake must be adjusted according to Phe tolerance. We report our experience with maternal PKU in relation to genotype PKU heterogeneity.

Methods And Results: A total of 10 pregnancies in 7 PKU women (7 different genotypes) were followed up as part of personalized care. Read More

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http://dx.doi.org/10.1016/j.numecd.2020.02.003DOI Listing
June 2020
3.323 Impact Factor

Food insecurity in females with phenylketonuria.

JIMD Rep 2020 May 20;53(1):103-110. Epub 2020 Mar 20.

Metabolic Genetics and Nutrition Program, Department of Human Genetics, Division of Medical Genetics Emory University School of Medicine Atlanta Georgia USA.

Phenylketonuria (PKU) is a genetic disorder characterized by insufficient metabolism of phenylalanine. Depending on severity, patients follow a low-phenylalanine diet and may consume medical food (MF) and low-protein modified foods; dietary and medical treatment can be expensive. This study assessed prevalence of food insecurity (FI), the lack of resources to access enough nutritious food to have an active, healthy life, in females with PKU and examined associations with diet and metabolic control. Read More

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http://dx.doi.org/10.1002/jmd2.12115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7203643PMC

Simplified Diet for nutrition management of phenylketonuria: A survey of U.S. metabolic dietitians.

JIMD Rep 2020 May 8;53(1):83-89. Epub 2020 Apr 8.

Met Ed Co. Boulder Colorado.

Background: Phenylketonuria (PKU) is an inherited metabolic disorder affecting the conversion of phenylalanine (Phe) to tyrosine. Medical nutrition therapy, consisting of a Phe-restricted diet with medical formula, is the primary treatment for PKU. The Simplified Diet is an approach to PKU nutrition management that allows certain fruits, vegetables, and low-protein foods to be eaten without measuring or tracking, referred to as free/uncounted foods. Read More

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http://dx.doi.org/10.1002/jmd2.12106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7203646PMC

Tryptophan metabolism in phenylketonuria: A French adult cohort study.

J Inherit Metab Dis 2020 May 11. Epub 2020 May 11.

Laboratoire des Maladies Héréditaires du Métabolisme, Service de Biochimie, Biologie Moléculaire, Toxicologie Environnementale, CHU de Grenoble-Alpes site Nord- Institut de Biologie et de Pathologie, La Tronche, France.

Many similarities between tryptophan (Trp) and phenylalanine (Phe) metabolisms exist. It is possible that a modification of Trp metabolism might be seen in phenylketonuria (PKU). As some of these metabolites have neuroactive properties, they should be consider in neurological impairment seen in this pathology and not totally explained by blood Phe concentrations. Read More

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http://dx.doi.org/10.1002/jimd.12250DOI Listing

Nutritional and metabolic parameters of children and adolescents with phenylketonuria.

Clin Nutr ESPEN 2020 Jun 15;37:44-49. Epub 2020 Apr 15.

Programa de Pós-Graduação em Saúde da Criança e do Adolescente, Federal University of Parana, 181 Carneiro St, Alto da Glória, Curitiba, Parana State, 80060-900, Brazil.

Background And Aims: Considering that phenylalanine-poor diets may be monotonous and compromise the development and nutritional status of children and adolescents with phenylketonuria, the aim of this study was to evaluate the anthropometric and biochemical characteristics of children and adolescents with this condition.

Methods: Retrospective study with anthropometric and biochemical data collection from patients with phenylketonuria in the age group 2-19.9 years. Read More

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http://dx.doi.org/10.1016/j.clnesp.2020.03.024DOI Listing

Development of an inventory to assess perceived barriers related to PKU treatment.

J Patient Rep Outcomes 2020 May 1;4(1):29. Epub 2020 May 1.

Department of Genetics, Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.

Background: According to studies of phenylketonuria (PKU), the Brazilian population's metabolic control shows unsatisfactory indexes from childhood. Research on patients' perceived difficulties or barriers to adherence to treatment can help us to comprehend how these outcomes are associated. The present study aimed to: (1) describe the development of an inventory for identifying the most frequent and relevant perceived barriers to PKU treatment from the perspective of patients, caregivers, and healthcare professionals; (2) evaluate certain psychometric characteristics of the new measure; and, (3) explore potential predictors (sociodemographic and medical characteristics) that may contribute to increasing the number of perceived barriers and examine whether the number of barriers is associated with the degree of adherence shown by the patient. Read More

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http://dx.doi.org/10.1186/s41687-020-00194-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7195505PMC

A Review on Electrochemical Sensors and Biosensors Used in Phenylalanine Electroanalysis.

Sensors (Basel) 2020 Apr 28;20(9). Epub 2020 Apr 28.

Department of Chemistry, Physics and Environment, Faculty of Sciences and Environment, "Dunărea de Jos" University of Galaţi, 47 Domneasca Street, 800008 Galaţi, Romania.

Phenylalanine is an amino acid found in breast milk and in many foods, being an essential nutrient. This amino acid is very important for the human body because it is transformed into tyrosine and, subsequently, into catecholamine neurotransmitters. However, there are individuals who were born with a genetic disorder called phenylketonuria. Read More

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http://dx.doi.org/10.3390/s20092496DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7249663PMC

A Survey of Eating Attitudes and Behaviors in Adolescents and Adults With Phenylalanine Hydroxylase Deficiency.

WMJ 2020 Mar;119(1):37-43

Division of General Pediatrics and Adolescent Medicine, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.

Introduction: Phenylalanine hydroxylase deficiency, commonly known as phenylketonuria (PKU), is an inborn error of metabolism that manifests in severe neurological damage when left untreated. Routine newborn screening has made early identification and treatment of affected individuals possible, changing the prognosis of PKU from devastating to excellent. The most effective treatment for PKU involves lifelong dietary restriction of protein, nutrition supplementation via medical foods, and frequent monitoring of amino acid levels in the blood. Read More

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Health Related Quality of Life assessment among early-treated Hungarian adult PKU patients using the PKU-QOL adult questionnaire.

Mol Genet Metab Rep 2020 Jun 22;23:100589. Epub 2020 Apr 22.

2 Department of Internal Medicine, Semmelweis University,Szentkirályi street 46, Budapest 1088, Hungary.

Background: The implementation of neonatal screening and the early initiation of lifelong therapy have helped to prevent severe complications and enabled much more favorable outcomes for early-treated phenylketonuria (ETPKU) patients. However, PKU patients tend to develop subtle cognitive and psychosocial abnormalities and the strict dietary therapy can present financial and social burden. Thus, PKU is expected to affect the quality of life (QoL) of these patients. Read More

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http://dx.doi.org/10.1016/j.ymgmr.2020.100589DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7183227PMC

The first study of successful pregnancies in Chinese patients with Phenylketonuria.

BMC Pregnancy Childbirth 2020 Apr 28;20(1):253. Epub 2020 Apr 28.

Department of Pediatrics, China-Japan Friendship Hospital, No. 2, Yinghua East Street, Chaoyang district, Beijing, 100029, China.

Background: Since the inception of newborn screening programs in China in the 1990s, pregnancy among patients with inherited, metabolic disorders has become more common. This study explores the management and outcomes of planned, full-term pregnancies in patients with phenylketonuria (PKU).

Method: Married patients with PKU from 2012 to 2017 were enrolled to receive prenatal counseling and regular health assessments. Read More

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http://dx.doi.org/10.1186/s12884-020-02941-9DOI Listing

Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia.

Hum Mutat 2020 Jul 30;41(7):1329-1338. Epub 2020 Apr 30.

Centro de Diagnóstico de Enfermedades Moleculares, Universidad Autónoma de Madrid, Madrid, Spain.

Biallelic variants of the gene DNAJC12, which encodes a cochaperone, were recently described in patients with hyperphenylalaninemia (HPA). This paper reports the retrospective genetic analysis of a cohort of unsolved cases of HPA. Biallelic variants of DNAJC12 were identified in 20 patients (generally neurologically asymptomatic) previously diagnosed with phenylalanine hydroxylase (PAH) deficiency (phenylketonuria [PKU]). Read More

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http://dx.doi.org/10.1002/humu.24026DOI Listing

Large Neutral Amino Acids (LNAAs) Supplementation Improves Neuropsychological Performances in Adult Patients with Phenylketonuria.

Nutrients 2020 Apr 15;12(4). Epub 2020 Apr 15.

Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, 80131 Naples, Italy.

Phenylketonuria is an inborn error of phenylalanine (Phe) metabolism diagnosed by newborn screening and treated early with diet. Although diet prevents intellectual disability, patients often show impairment of executive functions, working memory, sustained attention, and cognitive flexibility. Large neutral amino acids (LNAAs) have been proposed as a dietary supplement for PKU adults. Read More

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http://dx.doi.org/10.3390/nu12041092DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7230959PMC

Natural Protein Tolerance and Metabolic Control in Patients with Hereditary Tyrosinaemia Type 1.

Nutrients 2020 Apr 19;12(4). Epub 2020 Apr 19.

Birmingham Women's and Children's Hospital, Birmingham B4 6NH, UK.

In a longitudinal retrospective study, we aimed to assess natural protein (NP) tolerance and metabolic control in a cohort of 20 Hereditary Tyrosinaemia type I (HTI) patients. Their median age was 12 years ([3.2-17. Read More

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http://dx.doi.org/10.3390/nu12041148DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7230348PMC
April 2020
3.148 Impact Factor

Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.

EBioMedicine 2020 Apr 16;54:102730. Epub 2020 Apr 16.

Friedrich-Baur-Institute, Department of Neurology, University Hospital, LMU Munich, Munich, Germany; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany. Electronic address:

Background: Mitochondrial disorders are a group of rare diseases, caused by nuclear or mitochondrial DNA mutations. Their marked clinical and genetic heterogeneity as well as referral and ascertainment biases render phenotype-based prevalence estimations difficult. Here we calculated the lifetime risk of all known autosomal recessive mitochondrial disorders on basis of genetic data. Read More

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http://dx.doi.org/10.1016/j.ebiom.2020.102730DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7163308PMC

Animal Model Contributions to Congenital Metabolic Disease.

Adv Exp Med Biol 2020 ;1236:225-244

Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA, USA.

Genetic model systems allow researchers to probe and decipher aspects of human disease, and animal models of disease are frequently specifically engineered and have been identified serendipitously as well. Animal models are useful for probing the etiology and pathophysiology of disease and are critical for effective discovery and development of novel therapeutics for rare diseases. Here we review the impact of animal model organism research in three examples of congenital metabolic disorders to highlight distinct advantages of model system research. Read More

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http://dx.doi.org/10.1007/978-981-15-2389-2_9DOI Listing

Study of the Potential of the Capsule Shell Based on Natural Polysaccharides in Targeted Delivery of the L-Phenylalanine Ammonia-Lyase Enzyme Preparation.

Pharmaceuticals (Basel) 2020 Apr 9;13(4). Epub 2020 Apr 9.

Department of General Mathematics and Informatics, Kemerovo State University, Krasnaya Street, 6, Kemerovo 650043, Russia.

The treatment of classical phenylketonuria is currently represented by many new methods of disease management. A promising method is the use of the enzyme L-phenylalanine ammonia-lyase (PAL) in various forms. The widespread use of enzyme preparations in therapy is limited by a lack of understanding of the mechanisms and systems of the targeted transport of PAL into certain organs and tissues as a result of the incorporation of a drug into the carrier. Read More

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http://dx.doi.org/10.3390/ph13040063DOI Listing

Health-related quality of life of parents of children with phenylketonuria in Tehran Province, Islamic Republic of Iran.

East Mediterr Health J 2020 Mar 24;26(3):331-339. Epub 2020 Mar 24.

Office of Knowledge Translation and Research Utilization, Deputy of Research and Technology, Tehran University of Medical Sciences, Tehran, Islamic Republic of Iran.

Background: Parents of children with phenylketonuria are at risk of reduced quality of life.

Aims: This study determined the quality of life of parents of children with phenylketonuria in Tehran Province.

Methods: The study was conducted in 2015 and included parents of children with phenylketonuria referred to three government children's hospitals in Tehran Province that provide phenylketonuria services. Read More

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http://dx.doi.org/10.26719/emhj.19.045DOI Listing

Approaching altered inhibitory control in phenylketonuria: A functional MRI study with a Go-NoGo task in young female adults.

Eur J Neurosci 2020 Apr 11. Epub 2020 Apr 11.

Department of General Pediatrics, University Hospital Muenster, Muenster, Germany.

Subtle executive function deficits, particularly regarding inhibitory control, have been reported in patients with phenylketonuria (PKU) despite early dietary treatment. Purpose of this study was to assess whether young female adults with PKU exhibit altered neural activity underlying such deficits, particularly in a fronto-parietal cognitive control network (CCN). Behavioural data and functional magnetic resonance imaging (fMRI) data were acquired during a Go-NoGo task in 16 young adult patients with PKU and 17 control subjects. Read More

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http://dx.doi.org/10.1111/ejn.14738DOI Listing

Sustained Correction of a Murine Model of Phenylketonuria following a Single Intravenous Administration of AAVHSC15-PAH.

Mol Ther Methods Clin Dev 2020 Jun 13;17:568-580. Epub 2020 Mar 13.

Research and Development, Homology Medicines, 1 Patriots Park, Bedford, MA 01730, USA.

Phenylketonuria is an inborn error of metabolism caused by loss of function of the liver-expressed enzyme phenylalanine hydroxylase and is characterized by elevated systemic phenylalanine levels that are neurotoxic. Current therapies do not address the underlying genetic disease or restore the natural metabolic pathway resulting in the conversion of phenylalanine to tyrosine. A family of hepatotropic clade F adeno-associated viruses (AAVs) was isolated from human CD34 hematopoietic stem cells (HSCs) and one (AAVHSC15) was utilized to deliver a vector to correct the phenylketonuria phenotype in Pah mice. Read More

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http://dx.doi.org/10.1016/j.omtm.2020.03.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7118282PMC

The PKU & ME study: A qualitative exploration, through co-creative sessions, of attitudes and experience of the disease among adults with phenylketonuria in Italy.

Mol Genet Metab Rep 2020 Jun 2;23:100585. Epub 2020 Apr 2.

Clinical Psychology, Department of Health Sciences, University of Milan, Via A. di Rudinì 8, 20142 Milan, Italy.

Background: Phenylketonuria (PKU) is a hereditary metabolic disease that can be diagnosed and successfully treated from birth with a lifelong phenylalanine-restricted dietary regimen. However, optimal adherence to diet remains an issue and often progressively decreases after adolescence. The study aimed to explore the experience of adults living with PKU in order to gain insights related to their adherence to diet and engagement in managing their condition. Read More

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http://dx.doi.org/10.1016/j.ymgmr.2020.100585DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7125347PMC

Assessment of Anthropometric Indices in Patients with Phenylketonuria.

Iran J Child Neurol 2020 ;14(2):27-39

Department of Pediatric Endocrinology and Metabolic diseases, Mofid children hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Objectives: Dietary phenylalanine restriction is the main treatment of phenylketonuria (PKU, OMIM 261600). There are a number of studies which have demonstrated growth retardation in these patients, and some are in contrast. This study was performed to assess the growth parameters of treated PKU patients. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7085128PMC
January 2020

Adeno-Associated Virus and Hematopoietic Stem Cells: The Potential of Adeno-Associated Virus Hematopoietic Stem Cells in Genetic Medicines.

Hum Gene Ther 2020 May;31(9-10):542-552

Department of Hematology and Stem Cell Transplantation, City of Hope Medical Center, Duarte, California, USA.

Adeno-associated virus (AAV)-based vectors have transformed into powerful elements of genetic medicine with proven therapeutic efficacy and a good safety profile. Over the years, efforts to transduce hematopoietic stem cells (HSCs) with AAV2 vectors have, however, been challenging. While there was evidence that AAV2 delivered vector genomes to primitive, quiescent, multipotential, self-renewing, engrafting HSCs, transgene expression was elusive. Read More

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http://dx.doi.org/10.1089/hum.2020.049DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7232699PMC

Dried blood spot versus venous blood sampling for phenylalanine and tyrosine.

Orphanet J Rare Dis 2020 Apr 3;15(1):82. Epub 2020 Apr 3.

Department of Laboratory Medicine, Laboratory of Metabolic Diseases, University of Groningen, University Medical Center Groningen, Hanzeplein 1, 9713 GZ, Groningen, P.O. Box 30.001, 9700 RB, The Netherlands.

Background: This study investigated the agreement between various dried blood spot (DBS) and venous blood sample measurements of phenylalanine and tyrosine concentrations in Phenylketonuria (PKU) and Tyrosinemia type 1 (TT1) patients.

Study Design: Phenylalanine and tyrosine concentrations were studied in 45 PKU/TT1 patients in plasma from venous blood in lithium heparin (LH) and EDTA tubes; venous blood from LH and EDTA tubes on a DBS card; venous blood directly on a DBS card; and capillary blood on a DBS card. Plasma was analyzed with an amino acid analyzer and DBS were analyzed with liquid chromatography-mass spectrometry. Read More

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http://dx.doi.org/10.1186/s13023-020-1343-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7118958PMC

The readability of online health resources for phenylketonuria.

J Community Genet 2020 Mar 27. Epub 2020 Mar 27.

Patient and Population Health and Informatics Research, Swansea University Medical School, Singleton Park, Swansea, SA2 8PP, UK.

Phenylketonuria (PKU) is a condition that results in the build-up of phenylalanine in the blood. This can cause severe brain damage and neurological issues if left untreated. Management can be complex and many individuals may turn to the internet to access further information. Read More

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http://dx.doi.org/10.1007/s12687-020-00461-9DOI Listing

Management of Women With Phenylalanine Hydroxylase Deficiency (Phenylketonuria): ACOG Committee Opinion, Number 802.

Authors:

Obstet Gynecol 2020 Apr;135(4):e167-e170

Phenylalanine hydroxylase (PAH) deficiency is an autosomal recessive disorder of phenylalanine metabolism that is characterized by insufficient activity of PAH, a hepatic enzyme. Throughout this document, PAH deficiency is used instead of the older nomenclature of phenylketonuria, in order to reflect the spectrum of PAH deficiency and in accordance with the terminology established by the American College of Medical Genetics and Genomics. Aspects of PAH deficiency management that are particularly relevant to obstetrician-gynecologists or other obstetric care providers include the prevention of embryopathy associated with maternal hyperphenylalaninemia and PAH deficiency and the risk of genetic transmission of PAH deficiency. Read More

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http://dx.doi.org/10.1097/AOG.0000000000003768DOI Listing

Management of Women With Phenylalanine Hydroxylase Deficiency (Phenylketonuria): ACOG Committee Opinion Summary, Number 802.

Authors:

Obstet Gynecol 2020 Apr;135(4):987-988

Phenylalanine hydroxylase (PAH) deficiency is an autosomal recessive disorder of phenylalanine metabolism that is characterized by insufficient activity of PAH, a hepatic enzyme. Throughout this document, PAH deficiency is used instead of the older nomenclature of phenylketonuria, in order to reflect the spectrum of PAH deficiency and in accordance with the terminology established by the American College of Medical Genetics and Genomics. Aspects of PAH deficiency management that are particularly relevant to obstetrician-gynecologists or other obstetric care providers include the prevention of embryopathy associated with maternal hyperphenylalaninemia and PAH deficiency and the risk of genetic transmission of PAH deficiency. Read More

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http://dx.doi.org/10.1097/AOG.0000000000003769DOI Listing

Executive function in phenylketonuria (PKU): Insights from the Behavior Rating Inventory of Executive Function (BRIEF) and a large sample of individuals with PKU.

Neuropsychology 2020 May 23;34(4):456-466. Epub 2020 Mar 23.

Department of Psychological Sciences, University of Missouri.

Objective: Previous research has documented executive function (EF) impairments in individuals with early treated phenylketonuria (ETPKU). It remains unclear, however, whether some aspects of EF may be more affected than others. A number of factors, including small sample sizes and variability in EF tasks, have likely contributed to past mixed findings. Read More

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http://dx.doi.org/10.1037/neu0000625DOI Listing