8,479 results match your criteria Phenylketonuria

Pegvaliase dosing in adults with PKU: Requisite dose for efficacy decreases over time.

Mol Genet Metab 2022 Aug 5;137(1-2):104-106. Epub 2022 Aug 5.

Division of Genetics and Genomics, Boston Children's Hospital, 300 Longwood Ave, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, 25 Shattuck St, Boston, MA 02115, USA.

Novel pharmaceutical therapies such as pegvaliase, phenylalanine ammonia lyase (PAL), have enhanced disease control for many individuals with phenylketonuria (PKU). We present a retrospective chart review to assess pegvaliase doses over time in individuals followed at the Boston Children's Hospital PAL Clinic, including those who started pegvaliase in a clinical trial ("trial patients") and those who started after drug came to market ("post-market patients"). Trial patients were on pegvaliase an average of 4. Read More

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A Low-Phenylalanine-Containing Whey Protein Hydrolysate Stimulates Osteogenic Activity through the Activation of p38/Runx2 Signaling in Osteoblast Cells.

Nutrients 2022 Jul 29;14(15). Epub 2022 Jul 29.

Department of Food Science and Technology, Zhejiang University of Technology, Hangzhou 310014, China.

A phenylalanine (Phe)-restricted diet is indispensable for individuals suffering from phenylketonuria (PKU). Our previous study reported a low-Phe-containing whey protein hydrolysate (LPH) prepared from a selected whey protein hydrolysate (TA2H). This study aimed to investigate the osteogenic activity of LPH and TA2H in MC3T3-E1 preosteoblast cells and explore the underlying mechanism. Read More

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Advances in delivery methods of (spirulina) for enhanced therapeutic outcomes.

Bioengineered 2022 06;13(6):14681-14718

Department of Chemical and Environmental Engineering, Faculty of Science and Engineering, University of Nottingham Malaysia, Jalan Broga, Semenyih, Malaysia.

() aqueous extract has massive amounts of natural products that can be used as future drugs, such as C-phycocyanin, allophycocyanin, etc. This extract was chosen because of its high adaptability, which reflects its resolute genetic composition. The proactive roles of cyanobacteria, particularly in the medical field, have been discussed in this review, including the history, previous food and drug administration (FDA) reports, health benefits and the various dose-dependent therapeutic functions that possesses, including its role in fighting against lethal diseases such as cancer, SARS-CoV-2/COVID-19, etc. Read More

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Survey of Health Care Provider Understanding of Gene Therapy Research for Inherited Metabolic Disorders.

Clin Ther 2022 Aug 1. Epub 2022 Aug 1.

UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA. Electronic address:

Purpose: The treatment of inherited metabolic disorders (IMDs) has traditionally relied on dietary interventions that are difficult to maintain, expensive, and socially isolating. The development of gene therapy for IMDs aims to provide sufficient gene activity to address the underlying causes of these conditions. This study surveyed health care providers (HCPs) to characterize their familiarity with gene therapy technologies and to identify educational needs across roles in a multidisciplinary care team. Read More

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Burden of phenylketonuria in Latin American patients: a systematic review and meta-analysis of observational studies.

Orphanet J Rare Dis 2022 07 30;17(1):302. Epub 2022 Jul 30.

Medical Genetics Service, HCPA, Rua Ramiro Barcelos, 2350, Porto Alegre, RS, 90035-903, Brazil.

Background: Phenylketonuria (PKU) is an inborn error of metabolism caused by a deficiency of the enzyme phenylalanine hydroxylase. If untreated, the complications of PKU lead to significant neucognitive and neuropsychiatric impairments, placing a burden on both the individual's quality of life and on the healthcare system. We conducted a systematic literature review to characterize the impact of PKU on affected individuals and on healthcare resources in Latin American (LATAM) countries. Read More

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Expression of phenylalanine ammonia lyase as an intracellularly free and extracellularly cell surface-immobilized enzyme on a gut microbe as a live biotherapeutic for phenylketonuria.

Sci China Life Sci 2022 Jul 28. Epub 2022 Jul 28.

CAS Key Laboratory of Synthetic Biology, CAS Center for Excellence in Molecular Plant Sciences, Chinese Academy of Sciences, Shanghai, 200032, China.

Phenylketonuria (PKU), a disease resulting in the disability to degrade phenylalanine (Phe) is an inborn error with a 1 in 10,000 morbidity rate on average around the world which leads to neurotoxicity. As an potential alternative to a protein-restricted diet, oral intake of engineered probiotics degrading Phe inside the body is a promising treatment, currently at clinical stage II (Isabella, et al., 2018). Read More

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[Advances in separation and analysis of aromatic amino acids in food].

Se Pu 2022 Aug;40(8):686-693

Technology Innovation Center of Special Food for State Market Regulation, Wuxi Food Safety Inspection and Test Center, Wuxi 214142, China.

Amino acids are important building blocks of proteins in the human body, which are involved in many metabolic pathways. Patients with metabolic diseases such as phenylketonuria, tyrosinemia, and hepatic encephalopathy are genetically defective and cannot metabolize aromatic amino acids (AAA) in food; hence, a regular diet may lead to permanent physiological damage. For this reason, it is necessary to restrict the intake of AAA in their daily diet by limiting natural protein intake, while ensuring normal intake of low protein foods and supplementation with low-AAA protein equivalents. Read More

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Recommendations on phenylketonuria in Turkey.

Turk J Pediatr 2022 ;64(3):413-434

Division of Pediatric Metabolism and Nutrition, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Background: Phenylketonuria (PKU), is an autosomal recessive disease leading to the conversion defect of phenylalanine (Phe) into tyrosine. Severe neurocognitive and behavioral outcomes are observed in untreated cases. The present paper aims to review clinical experiences and expert recommendations in diagnosis, treatment, and follow-up of pediatric PKU patients in Turkey. Read More

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Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases.

J Pers Med 2022 Jul 12;12(7). Epub 2022 Jul 12.

National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation, Petroverigsky per.10, Bld. 3, 101000 Moscow, Russia.

Cystic fibrosis, phenylketonuria, alpha-1 antitrypsin deficiency, and sensorineural hearing loss are among the most common autosomal recessive diseases, which require carrier screening. The evaluation of population allele frequencies (AF) of pathogenic variants in genes associated with these conditions and the choice of the best genotyping method are the necessary steps toward development and practical implementation of carrier-screening programs. We performed custom panel genotyping of 3821 unrelated participants from two Russian population representative samples and three patient groups using real-time polymerase chain reaction (PCR) and next generation sequencing (NGS). Read More

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Identification of phenylketonuria patient genotypes using single-gene full-length sequencing.

Hum Genomics 2022 Jul 22;16(1):23. Epub 2022 Jul 22.

The Department of Laboratory Medicine, Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, Third Affiliated Hospital and Institute of Neuroscience of Zhengzhou University, Zhengzhou, 450052, People's Republic of China.

Background: Phenylketonuria (PKU) is a common, autosomal recessive inborn error of metabolism caused by PAH gene variants. After routine genetic analysis methods were applied, approximately 5% of PKU patients were still not diagnosed with a definite genotype.

Methods: In this study, for the first time, we identified PKU patients with unknown genotypes via single-gene full-length sequencing. Read More

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Drusen-like deposits in a patient heterozygous for phenylketonuria.

J Fr Ophtalmol 2022 Jul 18. Epub 2022 Jul 18.

Ophthalmology Unit, Department of Experimental Medicine, University of Rome Tor Vergata, Rome 00133, Italy.

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A Silk-Based Platform to Stabilize Phenylalanine Ammonia-lyase for Orally Administered Enzyme Replacement Therapy.

Mol Pharm 2022 Jul 21. Epub 2022 Jul 21.

Silklab, Department of Biomedical Engineering, Tufts University, Medford, Massachusetts 02155, United States.

Phenylalanine ammonia-lyase (PAL) has gained attention in recent years for the treatment of phenylketonuria (PKU), a genetic disorder that affects ∼1 in 15 000 individuals globally. However, the enzyme is easily degraded by proteases, unstable at room temperature, and currently administered in PKU patients as daily subcutaneous injections. We report here the stabilization of the PAL from , which is currently used to formulate pegvaliase, through incorporation in a silk fibroin matrix. Read More

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Assessment of parents´ knowledge regarding phenylketonuria and its affecting factors: a cross-sectional study.

Pan Afr Med J 2022 14;41:308. Epub 2022 Apr 14.

Kirikkale University School of Medicine, Department of Pediatric Metabolic Diseases and Nutrition, Kirikkale, Turkey.

Introduction: the management of phenylketonuria (PKU) is complex. Practical skills and knowledge of individuals taking care of PKU patients are important for treatment compliance. This study investigated parents´ knowledge about PKU and its affecting factors. Read More

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Genetic etiology and clinical challenges of phenylketonuria.

Hum Genomics 2022 Jul 19;16(1):22. Epub 2022 Jul 19.

Department of Clinical Nutrition, Faculty of Applied Medical Sciences, Umm Al-Qura University, Jeddah, Saudi Arabia.

This review discusses the epidemiology, pathophysiology, genetic etiology, and management of phenylketonuria (PKU). PKU, an autosomal recessive disease, is an inborn error of phenylalanine (Phe) metabolism caused by pathogenic variants in the phenylalanine hydroxylase (PAH) gene. The prevalence of PKU varies widely among ethnicities and geographic regions, affecting approximately 1 in 24,000 individuals worldwide. Read More

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A retrospective analysis of metabolic control in children with PKU in the COVID-19 era.

Mol Genet Metab Rep 2022 Sep 8;32:100897. Epub 2022 Jul 8.

1st Department of Pediatrics, Semmelweis University, Bókay János u. 53-54, Budapest 1083, Hungary.

Background: Patients with phenylketonuria (PKU) must maintain a lifelong natural protein-restricted diet to prevent neuro-cognitive damage. Early diagnosis is established with newborn screening, with diet subsequently controlled by regular phenylalanine (Phe) monitoring. During the COVID-19 pandemic, significant lockdown measures were introduced that may have influenced the above. Read More

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September 2022

Genome Guided Personalized Drug Therapy in Attention Deficit Hyperactivity Disorder.

Jan Haavik

Front Psychiatry 2022 27;13:925442. Epub 2022 Jun 27.

Department of Biomedicine, University of Bergen, Bergen, Norway.

ADHD is a common behavioral syndrome with a heritability of 70-80%. Genome wide sequencing and association studies indicate that ADHD risk variants are distributed across a wide range of allele frequencies and relative risks. Several common single nucleotide variants (SNPs) have been identified that increase the risk of ADHD with a few percent. Read More

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Influencing Factors on the Use of Tetrahydrobiopterin in Patients with Phenylketonuria.

Hui Gao

Evid Based Complement Alternat Med 2022 4;2022:5245200. Epub 2022 Jul 4.

Hebei Shijiazhuang Maternal and Child Health Care Hospital, Shijiazhuang, China.

Objective: To explore and analyze the influencing factors of tetrahydrobiopterin therapy in patients with phenylketonuria.

Methods: 86 children with phenylketonuria (PKU) diagnosed and treated in our hospital from February 2019 to September 2021 were randomly enrolled. All the children underwent coenzyme hydroxybiopterin and urinary pterin spectrum analysis, and the children with deficiency received gene mutation testing. Read More

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Dental Status and Periodontal Health of Patients with Phenylketonuria in Latvia.

Acta Stomatol Croat 2022 Jun;56(2):109-119

Scientific Laboratory of Molecular Genetics, Rīga Stradiņš University, Rīga, Latvia.

Objectives: Phenylketonuria (PKU) is an autosomal recessive inherited disorder of phenylalanine metabolism resulting from a deficiency of phenylalanine hydroxylase. The aim of this study was to evaluate the dental status and periodontal health of PKU patients in Latvia.

Material And Methods: Forty-five PKU patients and age/sex-matched controls were recruited for this cross-sectional study. Read More

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[Analysis of GCH1 gene variant in a consanguineous Chinese pedigree affected with tetrahydrobiopterin deficiency].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2022 Jul;39(7):713-717

Neonatal Screening Center, the Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.

Objective: To explore the genetic basis for a child featuring tetrahydrobiopterin deficiency and global developmental delay.

Methods: Clinical and laboratory examinations were carried out for the child. Genomic DNA of the patient was subjected to high-throughput sequencing to identify genetic variants associated with hyperphenylalaninemia. Read More

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Starting the conversation on gene therapy for phenylketonuria: Current perspectives of patients, caregivers, and advocates.

Mol Genet Metab Rep 2022 Jun 8;31:100855. Epub 2022 Mar 8.

National Phenylketonuria Alliance, 2809 E. Hamilton Ave., #311, Eau Claire, WI 54701, USA.

Phenylketonuria (PKU) is a rare genetic condition caused by inborn error(s) in the gene for the enzyme phenylalanine hydroxylase. Resulting loss of phenylalanine (Phe) metabolism requires strict dietary therapy and/or medication to prevent toxic accumulation of Phe. Novel investigational therapies, including gene therapies that aim to address underlying causes of PKU, are now entering clinical trials. Read More

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Domino liver transplant from a donor with maple syrup urine disease into a recipient with phenylketonuria.

Mol Genet Metab Rep 2022 Jun 21;31:100866. Epub 2022 Apr 21.

Hillman Center for Pediatric Transplantation, UPMC Children's Hospital of Pittsburgh, United States of America.

Classical phenylketonuria (PKU) presents a unique challenge for women of child-bearing age. In the context of pregnancy, poorly controlled hyperphenylalaninemia can result in a devastating constellation of outcomes for the baby referred to as the maternal PKU Syndrome. We present the case of a woman with classical PKU unable to maintain a restricted diet and refractory to pharmacological therapies. Read More

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Breastfeeding practices for infants with inherited metabolic disorders: A survey of registered dietitians in the United States and Canada.

Mol Genet Metab Rep 2022 Jun 4;31:100865. Epub 2022 Apr 4.

Department of Human Genetics and Department of Pediatrics, Emory University, Atlanta, GA, United States of America.

Background: Breast milk is considered the optimal first food for infants. Breastfeeding infants with inherited metabolic disorders (IMDs) is complex due to the critical need to manage intake of specific macronutrients depending on the type of IMD.

Objective: To describe current practices of registered dietitians (RD) who treat patients with IMDs regarding the incorporation of breastmilk into disease management. Read More

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Caregiver burden, and parents' perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism.

Mol Genet Metab Rep 2022 Jun 6;31:100876. Epub 2022 May 6.

Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.

Background: Living with a non-acute (phenylketonuria) or acute (e.g. urea cycle disorders, organic acidurias) intoxication-type inborn error of metabolism (IT-IEM) can have a substantial impact on health-related quality of life (HrQoL) of paediatric patients and their families. Read More

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Spatio-temporal dynamics of pathogenic variants associated with monogenic disorders reconstructed with ancient DNA.

PLoS One 2022 24;17(6):e0269628. Epub 2022 Jun 24.

Department of Medical Genetics, Medical Faculty, Medical University-Sofia, Sofia, Bulgaria.

Genetic disease burden in ancient communities has barely been evaluated despite an ever expanding body of ancient genomes becoming available. In this study, we inspect 2729 publicly available ancient genomes (100 BP-52000 BP) for the presence of pathogenic variants in 32643 disease-associated loci. We base our subsequent analyses on 19 variants in seven genes-PAH, EDAR, F11, HBB, LRRK2, SLC12A6 and MAOA, associated with monogenic diseases and with well-established pathogenic impact in contemporary populations. Read More

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Cognitive function in untreated subjects with mild hyperphenylalaninemia: a systematic review.

Neurol Sci 2022 Sep 21;43(9):5593-5603. Epub 2022 Jun 21.

Metabolic Liver Disease Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.

Background: This systematic review study aims to evaluate the cognitive function of patients with mild hyperphenylalaninemia (mHPA) without treatment.

Methods: A systematic literature search was done from the 1st of May to the 30th of July in 2021 on published studies. The search strategy was ((hyperphenylalaninemia) OR (phenylketonuria) AND (cognition)). Read More

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September 2022

Designing stimuli-responsive upconversion nanoparticles based on an inner filter effect mimetic immunoassay for phenylketonuria accuracy diagnosis.

Colloids Surf B Biointerfaces 2022 Jun 15;217:112642. Epub 2022 Jun 15.

College of Life Sciences, Dalian Minzu University, Dalian 116600, Liaoning, PR China. Electronic address:

Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism caused by an inherited deficiency in L-phenylalanine-4-hydroxylase (PAH) activity. It is usually controlled by diet and monitored regularly with markers, as PKU is not curable. However, conventional methods for target biomarker analysis are invasive and labor intensive. Read More

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Migration and newborn screening: time to build on the European Asylum, Integration and Migration Fund?

Eur J Contracept Reprod Health Care 2022 Jun 21:1-5. Epub 2022 Jun 21.

3rd Department of Obstetrics and Gynecology, National and Kapodistrian University of Athens, Attikon University Hospital, Athens, Greece.

Purpose: The authors discuss the need for newborn screening in the context of the migration policy of the European Union, and particularly, the European Asylum, Migration and Integration Fund.

Methods: The authors searched scholarly databases (Pubmed, Scopus, Google scholar) and grey literature (LexEuropa, Policy reports) to identify original peer-reviewed research examining the migration to the European Union and the provision of healthcare to infants born to refugees and immigrant mothers. Resources in language different from English, French, German and Greek were not taken into consideration. Read More

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