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    Melanoma cases demonstrate increased carrier frequency of Phenylketonuria/hyperphenylalanemia mutations.
    Pigment Cell Melanoma Res 2018 Feb 23. Epub 2018 Feb 23.
    Department of Nutrition, Case Western Reserve University, 10900 Euclid Avenue, Cleveland, OH, 44106, USA.
    Identifying novel melanoma genetic risk factors informs screening and prevention efforts. Mutations in the phenylalanine hydroxylase gene (the causative gene in phenylketonuria) lead to reduced pigmentation in untreated phenylketonuria patients, and reduced pigmentation is associated with greater melanoma risk. Therefore, we sought to characterize the relationship between phenylketonuria carrier status and melanoma risk. Read More

    Parenting a Child with Phenylketonuria (PKU): an Interpretative Phenomenological Analysis (IPA) of the Experience of Parents.
    J Genet Couns 2018 Feb 21. Epub 2018 Feb 21.
    Division of Psychology and Mental Health, University of Manchester, Manchester, UK.
    Phenylketonuria (PKU) is a rare inherited metabolic disorder which can cause neurological damage if left untreated. PKU is identified through newborn screening in developed countries, and treatment begins immediately to prevent these severe consequences. When a child is diagnosed, parents must assume immediate responsibility for the management of PKU and prevention of neurological damage. Read More

    Subacute onset leukodystrophy and visual-spatial disorders revealing phenylketonuria combined with homocysteinmia in adulthood: A case report.
    Medicine (Baltimore) 2018 Feb;97(8):e9801
    Department of Neurology, The Second People's Hospital of Guiyang, Guiyang, Guizhou, China.
    Rationale: 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. Read More

    Metabolomic Insights into the Nutritional Status of Adults and Adolescents with Phenylketonuria Consuming a Low-Phenylalanine Diet in Combination with Amino Acid and Glycomacropeptide Medical Foods.
    J Nutr Metab 2017 31;2017:6859820. Epub 2017 Dec 31.
    Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
    Background: Nutrient status in phenylketonuria (PKU) requires surveillance due to the restrictive low-Phe diet in combination with amino acid medical foods (AA-MF) or glycomacropeptide medical foods (GMP-MF). Micronutrient profiles of medical foods are diverse, and optimal micronutrient supplementation in PKU has not been established.

    Methods: In a crossover design, 30 participants with PKU were randomized to consume AA-MF and Glytactin™ GMP-MF in combination with a low-Phe diet for 3 weeks each. Read More

    Brain bioenergetics in rats with acute hyperphenylalaninemia.
    Neurochem Int 2018 Feb 14. Epub 2018 Feb 14.
    Laboratório de Erros Inatos do Metabolismo, Unidade Acadêmica de Ciências da Saúde, Universidade do Extremo Sul Catarinense, Criciúma, SC, Brazil. Electronic address:
    Phenylketonuria (PKU) is a disorder of phenylalanine (Phe) metabolism caused by deficient phenylalanine hydroxylase activity. The deficiency results in increased levels of Phe and its metabolites in fluids and tissues of patients. PKU patients present neurological signals and symptoms including hypomyelination and intellectual deficit. Read More

    Multiple SNPs Detection Based on Lateral Flow Assay for Phenylketonuria Diagnostic.
    Anal Chem 2018 Feb 16. Epub 2018 Feb 16.
    McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College , Beijing 100005, China.
    Single nucleotide polymorphisms (SNPs) are closely related to genetic diseases, but current SNP detection methods, such as DNA microarrays that include tedious procedures and expensive, sophisticated instruments, are unable to perform rapid SNPs detection in clinical practice, especially for those multiple SNPs related to genetic diseases. In this study, we report a sensitive, low cost, and easy-to-use point-of-care testing (POCT) system formed by combining amplification refractory mutation system (ARMS) polymerase chain reaction with gold magnetic nanoparticles (GMNPs) and lateral flow assay (LFA) noted as the ARMS-LFA system, which allow us to use a uniform condition for multiple SNPs detection simultaneously. The genotyping results can be explained by a magnetic reader automatically or through visual interpretation according to the captured GMNPs probes on the test and control lines of the LFA device. Read More

    Supplementation of Micronutrient Selenium in Metabolic Diseases: Its Role as an Antioxidant.
    Oxid Med Cell Longev 2017 26;2017:7478523. Epub 2017 Dec 26.
    School of Chinese Medicine, The University of Hong Kong, Pokfulam, Hong Kong.
    Selenium is an essential mineral naturally found in soil, water, and some of the food. As an antioxidant, it is one of the necessary trace elements in human body and has been suggested as a dietary supplement for health benefit. Although the human body only needs a trace amount of selenium every day, plenty of recent studies have revealed that selenium is indispensable for maintaining normal functions of metabolism. Read More

    Assessing the Phenylketonuria Screening Program in Newborns, Iran 2015-2016.
    Acta Med Iran 2018 Jan;56(1):49-55
    Social Determinants of Health Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran. AND Department of Community Health, Shahrekord University of Medical Sciences, Shahrekord, Iran.
    Phenylketonuria is one of the most important congenital disorders and an autosomal recessive metabolic disease that can cause irreversible brain damages, mental retardation, and cognitive disorders if left untreated. In order to reduce the genetic abnormalities caused by this metabolic disease, screening programs are implemented. The quality of the program must be properly assessed to achieve the objectives of this program if promoting children's health is of concern. Read More

    Vitamin/mineral and micronutrient status in patients with classical phenylketonuria.
    Clin Nutr 2018 Feb 9. Epub 2018 Feb 9.
    Dokuz Eylul University, Division of Pediatric Metabolism and Nutrition, Izmir, Turkey. Electronic address:
    Background & Aims: Strict low-phenylalanine diet is associated with an increased risk of developing micronutrient deficiencies in patients with phenylketonuria (PKU). The primary objective of this single-center, case-control study was to assess the nutritional parameters of patients with PKU on strict low-phenylalanine diet without vitamin and mineral supplementation compared to a healthy control group. Secondary objective was to identify the adequacy of vitamin/mineral supplementation in phenylalanine-free (Phe-free) amino acid formulas. Read More

    Developmental Trajectories of Executive and Verbal Processes in Children with Phenylketonuria.
    Dev Neuropsychol 2018 Feb 12:1-12. Epub 2018 Feb 12.
    a Department of Psychological & Brain Sciences , Washington University , St. Louis , Missouri , United States of America.
    Phenylketonuria (PKU) is a hereditary disorder characterized by disrupted phenylalanine metabolism and cognitive impairment. However, the precise nature and developmental trajectory of this cognitive impairment remains unclear. The present study used a verbal fluency task to dissociate executive and verbal processes in children with PKU (n = 23; 7-18 years) and controls (n = 44; 7-19 years). Read More

    PAH mutation spectrum and correlation with PKU manifestation in north Jiangsu province population.
    Kaohsiung J Med Sci 2018 Feb 5;34(2):89-94. Epub 2017 Oct 5.
    Department of Medical Laboratory, Lianyungang Maternal and Child Health Hospital, Lianyungang, Jiangsu, China. Electronic address:
    Phenylketonuria (PKU) is a common autosomal recessive disorder of phenylalanine metabolism and mainly results a deficiency of phenylalanine hydroxylase gene (PAH). The incidence of various PAH mutations have race and ethnicity differences. We report a spectrum of PAH mutations complied from 35 PKU children who are all Chinese Han population from north Jiangsu in this study. Read More

    Mutational spectrum of the phenylalanine hydroxylase gene in patients with phenylketonuria in the central region of China.
    Scand J Clin Lab Invest 2018 Feb 1:1-8. Epub 2018 Feb 1.
    a The Third Affiliated Hospital of Zhengzhou University , Zhengzhou , China.
    Phenylketonuria (PKU, OMIM 261600) caused by phenylalanine hydroxylase (PAH) deficiency is an autosomal recessive disease that is characterized by abnormalities of phenylalanine metabolism. In this study, a total of 77 patients, originating from the central region of China and who were diagnosed with PAH deficiency at the third affiliated hospital of Zhengzhou University, were enrolled in this study. The 13 exons and 12 flanking introns of the PAH gene were analyzed by Sanger sequencing and next generation sequencing. Read More

    Arterial stiffness assessment in patients with phenylketonuria.
    Medicine (Baltimore) 2017 Dec;96(51):e9322
    Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Service of Neonatology, Department of Pediatrics, Hospital Clínico Universitario de Santiago, CIBERER, Health Research Institute of Santiago de Compostela (IDIS), A Choupana.
    In patients with phenylketonuria (PKU) compliant to diet greater tendency to overweight and higher inflammatory biomarkers levels than controls were reported. Although this could lead to atherogenesis, the elastic properties of large arteries in PKU patients have never been assessed. The aim of this study was to assess arterial stiffness measured by applanation tonometry in PKU patients compared to healthy controls. Read More

    The role of the clinician in the multi-omics era: are you ready?
    J Inherit Metab Dis 2018 Jan 23. Epub 2018 Jan 23.
    Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.
    Since Garrod's first description of alkaptonuria in 1902, and newborn screening for phenylketonuria introduced in the 1960s, P4 medicine (preventive, predictive, personalized, and participatory) has been a reality for the clinician serving patients with inherited metabolic diseases. The era of high-throughput technologies promises to accelerate its scale dramatically. Genomics, transcriptomics, epigenomics, proteomics, glycomics, metabolomics, and lipidomics offer an amazing opportunity for holistic investigation and contextual pathophysiologic understanding of inherited metabolic diseases for precise diagnosis and tailored treatment. Read More

    Non-invasive prenatal testing of pregnancies at risk for phenylketonuria.
    Arch Dis Child Fetal Neonatal Ed 2018 Jan 20. Epub 2018 Jan 20.
    Genetics and Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
    Background: Phenylketonuria (PKU) is a common metabolic disorder caused predominately by mutations in the phenylalanine hydroxylase () 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).

    Methods: A total of 18 couples at genetic risk for having a child with PKU were recruited to the study. Read More

    The tyranny of the averages and the indiscriminate use of risk factors in public health: The case of coronary heart disease.
    SSM Popul Health 2017 Dec 18;3:684-698. Epub 2017 Aug 18.
    Unit for Cardiovascular Epidemiology, CRC, Faculty of Medicine, Lund University, Sweden.
    Modern medicine is overwhelmed by a plethora of both established risk factors and novel biomarkers for diseases. The majority of this information is expressed by probabilistic measures of association such as the odds ratio (OR) obtained by calculating differences in average "risk" between exposed and unexposed groups. However, recent research demonstrates that even ORs of considerable magnitude are insufficient for assessing the ability of risk factors or biomarkers to distinguish the individuals who will develop the disease from those who will not. Read More

    Response to the Letter to the Editor Regarding "Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria".
    Ann Nutr Metab 2018 Jan 16;72(1):80-81. Epub 2018 Jan 16.
    Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.

    Blood phenylalanine reduction corrects CNS dopamine and serotonin deficiencies and partially improves behavioral performance in adult phenylketonuric mice.
    Mol Genet Metab 2018 Jan 19;123(1):6-20. Epub 2017 Oct 19.
    Department of Medical and Molecular Genetics, Oregon Health & Science University, Mailstop L-103, 3181 Sam Jackson Park Rd., Portland, OR 97239, USA. Electronic address:
    Central nervous system (CNS) deficiencies of the monoamine neurotransmitters dopamine and serotonin have been implicated in the pathophysiology of neuropsychiatric dysfunction in human phenylketonuria (PKU). In this study, we confirmed the occurrence of brain dopamine and serotonin deficiencies in association with severe behavioral alterations and cognitive impairments in hyperphenylalaninemic C57BL/6-Pahmice, a model of human PKU. Phenylalanine-reducing treatments, including either dietary phenylalanine restriction or liver-directed gene therapy, initiated during adulthood were associated with increased brain monoamine content along with improvements in nesting behavior but without a change in the severe cognitive deficits exhibited by these mice. Read More

    Blood phenylalanine instability strongly correlates with anxiety in phenylketonuria.
    Mol Genet Metab Rep 2018 Mar 27;14:80-82. Epub 2017 Dec 27.
    Department of Medical Genetics, Jagiellonian University Medical College, Krakow, Poland.
    We assessed the relationship between anxiety and long-term metabolic control in adolescents with phenylketonuria (PKU). We used a standardized psychological test to measure anxiety level and analyzed lifelong blood phenylalanine stability in a selected group of 25 PKU teenagers with treatment adherence problems. We demonstrated significant correlations of anxiety with variability of blood phenylalanine concentrations and with severity of hyperphenylalaninemia. Read More

    Flux analysis of inborn errors of metabolism.
    J Inherit Metab Dis 2018 Jan 9. Epub 2018 Jan 9.
    Section of Systems Medicine and Metabolic Signaling, Laboratory of Pediatrics, Department of Pediatrics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
    Patients with an inborn error of metabolism (IEM) are deficient of an enzyme involved in metabolism, and as a consequence metabolism reprograms itself to reach a new steady state. This new steady state underlies the clinical phenotype associated with the deficiency. Hence, we need to know the flux of metabolites through the different metabolic pathways in this new steady state of the reprogrammed metabolism. Read More

    Correction to: Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.
    BMC Med Genet 2018 Jan 9;19(1). Epub 2018 Jan 9.
    Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, Henan Engineering Research Center for Gene Editing of Human Genetic Disease, Jianshe Rd, Erqi District, Zhengzhou, Henan, 450052, People's Republic of 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. Read More

    [Singleton and twin pregnancies of PKU patients - individual variability of phenylalanine tolerance: experience of a single treatment center (Preliminary report)].
    Dev Period Med 2017 ;21(4):344-360
    Klinika Pediatrii, Instytut Matki i Dziecka, Warszawa, Polska, Przykliniczna Poradnia Fenyloketonurii, Instytut Matki i Dziecka, Warszawa, Polska.
    Phenylketonuria (PKU) is the autosomal recessive deficiency of phenylalanine hydroxylase resulting in the accumulation of phenylalanine (Phe) in blood and in the brain. Phe restriction in a patient's diet is determined depending on the amount of Phe intake which allows for stable blood Phe levels within the therapeutic range of 120-360µmol/L. In clinical practice the empirical determination of Phe tolerance relies on frequent assessment of blood Phe concentrations in relation to Phe intake from food records. Read More

    Characterization of Phenyalanine Hydroxylase Gene Mutations in Chilean PKU Patients.
    JIMD Rep 2017 Dec 30. Epub 2017 Dec 30.
    Instituto de Nutrición y Tecnología de los Alimentos, Dr. Fernando Monckeberg Barros, Universidad de Chile, Santiago, Chile.
    Phenylketonuria (PKU, OMIM 261600) is an autosomal recessive disease, caused by mutations in the Phenylalanine Hydroxylase (PAH) gene situated in chromosome 12q22-q24.2. This gene has 13 exons. Read More

    Effect of Blood Phenylalanine Levels on Oxidative Stress in Classical Phenylketonuric Patients.
    Cell Mol Neurobiol 2017 Dec 28. Epub 2017 Dec 28.
    Division of Physiology, Harran University, Sanlıurfa, Turkey.
    Mental retardation, which occurs in phenylketonuric patients, is associated with increased levels of phenylalanine, increased oxidative stress, and an imbalance of amino acids in the brain. Recent studies have shown that oxidative stress plays a role in the pathogenesis of phenylketonuria. In this work, we aimed to compare the influence of blood phenylalanine levels on oxidative stress parameters in phenylketonuric patients who divided patients into groups according to blood Phe levels during follow-up visits and compared these groups with healthy controls. Read More

    Maternal phenylketonuria syndrome: studies in mice suggest a potential approach to a continuing problem.
    Pediatr Res 2018 Jan 31. Epub 2018 Jan 31.
    Department of Biochemistry and Molecular Biology, University of Florida College of Medicine, University of Florida Academic Health Center, Gainesville, Florida.
    BackgroundUntreated phenylketonuria (PKU), one of the most common human genetic disorders, usually results in mental retardation. Although a protein-restricted artificial diet can prevent retardation, dietary compliance in adults is often poor. In pregnant PKU women, noncompliance can result in maternal PKU syndrome, where high phenylalanine (Phe) levels cause severe fetal complications. Read More

    Serum ischemia modified albumin is a possible new marker of oxidative stress in phenylketonuria.
    Metab Brain Dis 2017 Dec 21. Epub 2017 Dec 21.
    Diagnostic Laboratory Sciences and Technology Research Center, School of Paramedical Sciences, Shiraz University of Medical Sciences, Shiraz, Iran.
    The role of oxidative stress in the pathogenesis of phenylketonuria (PKU)-associated disorders has been implicated. Ischemia modified albumin (IMA) is a modified form of serum albumin, which is produced under the conditions of oxidative stress. The aim of this study was to measure the serum level of IMA in the PKU patients and to investigate its ability in predicting the status of oxidative stress in these patients. Read More

    Quality of life and adherence to treatment in early-treated Brazilian phenylketonuria pediatric patients.
    Braz J Med Biol Res 2017 Dec 11;51(2):e6709. Epub 2017 Dec 11.
    Instituto de Puericultura e Pediatria Martagão Gesteira, Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brasil.
    Early dietary treatment of phenylketonuria (PKU), an inborn error of phenylalanine (Phe) metabolism, results in normal cognitive development. Although health-related quality of life (HRQoL) of PKU patients has been reported as unaffected in high-income countries, there are scarce data concerning HRQoL and adherence to treatment of PKU children and adolescents from Brazil. The present study compared HRQoL scores in core dimensions of Brazilian early-treated PKU pediatric patients with those of a reference population, and explored possible relationships between adherence to treatment and HRQoL. Read More

    Establishing core outcome sets for phenylketonuria (PKU) and medium-chain Acyl-CoA dehydrogenase (MCAD) deficiency in children: study protocol for systematic reviews and Delphi surveys.
    Trials 2017 Dec 19;18(1):603. Epub 2017 Dec 19.
    School of Epidemiology and Public Health, University of Ottawa, 600 Peter Morand Drive, Ottawa, ON, K1G 5Z3, Canada.
    Background: Inherited metabolic diseases (IMD) are a large group of rare single-gene disorders that are typically diagnosed early in life. There are important evidence gaps related to the comparative effectiveness of therapies for IMD, which are in part due to challenges in conducting randomized controlled trials (RCTs) for rare diseases. Registry-based RCTs present a unique opportunity to address these challenges provided the registries implement standardized collection of outcomes that are important to patients and their caregivers and to clinical providers and healthcare systems. Read More

    AMP-activated protein kinase activation in mediating phenylalanine-induced neurotoxicity in experimental models of phenylketonuria.
    J Inherit Metab Dis 2017 Dec 11. Epub 2017 Dec 11.
    Department of Neonatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, 1665 Kongjiang Road, Shanghai, 200092, People's Republic of China.
    Phenylketonuria (PKU), one of the most prevalent autosomal recessive disorders of amino acid metabolism, is characterized by abnormal accumulation of phenylalanine, which can lead to intellectual disability. The main pathologic changes in the central nervous system of untreated phenylketonuric patients are reductions in the number of axons, dendrites, and synapses in the brain. Such alterations are thought to be mainly associated with the toxic effects caused by phenylalanine. Read More

    Follow-up status during the first 5 years of life for metabolic disorders on the federal Recommended Uniform Screening Panel.
    Genet Med 2017 Dec 7. Epub 2017 Dec 7.
    Genetic Disease Screening Program, California Department of Public Health, Richmond, California, USA.
    PurposeTo investigate the 5-year follow-up status for newborns diagnosed with metabolic disorders designated as "primary disorders" on the federal Recommended Uniform Screening Panel (RUSP).MethodsFollow-up status and demographic characteristics are described for 426 newborns diagnosed with one of 20 primary metabolic disorders on the RUSP between 2005 and 2009. Newborn screening program data were linked to birth certificate data. Read More

    Incidence of Neonatal Hyperphenylalaninemia Based on High-performance Liquid Chromatography Confirmatory Technique in Mazandaran Province, Northern Iran (2007-2015).
    Int J Prev Med 2017 7;8:93. Epub 2017 Nov 7.
    Department of Pharmacology, Faculty of Pharmacy, Mazandaran University of Medical Sciences, Sari, Iran.
    Background: Classic phenylketonuria (PKU) is a metabolic disorder. The purpose of this study was to assess epidemiological factors of PKU phenotypes in a neonatal screening program for Mazandaran, Iran.

    Methods: In this descriptive-retrospective study from 2007 to 2015, neonates PKU level was conducted by phenylalanine level based on a biochemical technique by ELISA and then by confirmatory methods high performance liquid chromatography. Read More

    Investigation of Five Common Mutations on Phenylalanine Hydroxylase Gene of Phenylketonuria Patients from Two Provinces in North of Iran.
    Int J Prev Med 2017 7;8:89. Epub 2017 Nov 7.
    Central Health Center, Mazandaran University of Medical Sciences, Sari, Iran.
    Background: There are more than 500 different mutations on phenylalanine hydroxylase (PAH) gene that is responsible for phenylketonuria (PKU) diseases and the spectrum of these mutations is varied in different populations. The main clinical manifestation of untreated patients is severe mental retardation. The PAH gene, that is 90 kb long, is consisted of 13 exons and 12 introns. Read More

    Living with a rare disorder: a systematic review of the qualitative literature.
    Mol Genet Genomic Med 2017 11 23;5(6):758-773. Epub 2017 Jul 23.
    Centre for Rare Disorders, Oslo University Hospital, Rikshospitalet, P.B. 4950 Nydalen, Oslo, 0424, Norway.
    Background: Individuals with rare diseases may face challenges that are different from those experienced in more common medical conditions. A wide range of different rare conditions has resulted in a myriad of studies investigating the specificities of the diagnosis in focus. The shared psychological experiences of individuals with a rare condition, however, have not been reviewed systematically. Read More

    Mutation analysis of the phenylalanine hydroxylase gene and prenatal diagnosis of phenylketonuria in Shaanxi, China.
    J Pediatr Endocrinol Metab 2017 Nov;30(12):1305-1310
    Background: This study aims to investigate the spectrum and frequency of phenylalanine hydroxylase (PAH) gene mutations and the power to prenatally diagnose phenylketonuria (PKU) patients in Shaanxi, China.

    Methods: Polymerase chain reaction (PCR) and DNA sequencing analyses were performed to examine the PAH gene in 33 PKU patients and seven amniotic fluid samples. Thirty-four pathogenic variants were indicated in all 63 alleles, in which two probands carried three variants. Read More

    Large neutral amino acid supplementation as an alternative to the phenylalanine-restricted diet in adults with phenylketonuria: evidence from adult Pah-enu2 mice.
    J Nutr Biochem 2018 Mar 12;53:20-27. Epub 2017 Oct 12.
    University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, Groningen, the Netherlands. Electronic address:
    Phenylketonuria treatment mainly consists of a phenylalanine-restricted diet but still results in suboptimal neuropsychological outcome, which is at least partly based on cerebral monoamine deficiencies, while, after childhood, treatment compliance decreases. Supplementation of large neutral amino acids (LNAAs) was previously demonstrated in young phenylketonuria mice to target all three biochemical disturbances underlying brain dysfunction in phenylketonuria. However, both its potential in adult phenylketonuria and the comparison with the phenylalanine-restricted diet remain to be established. Read More

    DNAJC12 deficiency: A new strategy in the diagnosis of hyperphenylalaninemias.
    Mol Genet Metab 2018 Jan 20;123(1):1-5. Epub 2017 Nov 20.
    Division of Metabolism, University Children's Hospital Zürich, Zürich, Switzerland.
    Patients with hyperphenylalaninemia (HPA) are detected through newborn screening for phenylketonuria (PKU). HPA is known to be caused by deficiencies of the enzyme phenylalanine hydroxylase (PAH) or its cofactor tetrahydrobiopterin (BH). Current guidelines for the differential diagnosis of HPA would, however, miss a recently described DNAJC12 deficiency. Read More

    [Tetrahydrobiopterin (BH) deficiency - diagnosis and treatment].
    Orv Hetil 2017 Dec;158(48):1897-1902
    I. Gyermekgyógyászati Klinika, Semmelweis Egyetem, Általános Orvostudományi Kar Budapest, Bókay J. u. 53., 1083.
    Since the initial breaking discovery of Følling that the severe neurological consequences of phenylketonuria could be prevented by use of low phenylalanine (Phe) diet, it has been shortly recognised that defective phenylalanine metabolism may also arise from the deficiency of tetrahydrobiopterin (BH) cofactor, required for phenylalanine-hydroxylase activity. Furthermore, as BHis in Phe metabolism, it is also a cofactor for the activities of tyrosine hydroxylase and tryptophane hydroxylase, enzymes required for the synthesis of catecholamines and serotonin neurotransmitters. Besides hyperphenylalaninemia in patients with tetrahydrobiopterin deficiencies, dopamine and serotonin deficiencies, with different disorders of the central nervous system also develop. Read More

    The Validity of Bioelectrical Impedance Analysis to Measure Body Composition in Phenylketonuria.
    JIMD Rep 2017 Nov 24. Epub 2017 Nov 24.
    Department of Nutrition, Dietetics and Food, Monash University, Melbourne, VIC, Australia.
    Aim: To compare the measurement of total body water (TBW) and fat-free mass (FFM) using the criterion method of deuterium dilution space (HO) with bioelectrical impedance analysis (BIA) using a portable QuadScan 4000, Bodystatin children and adolescents with phenylketonuria (PKU).

    Methods: Sixteen patients with PKU, median age is 12.5 (range 5-20. Read More

    The Effects of Breastfeeding in Infants With Phenylketonuria.
    J Pediatr Nurs 2018 Jan - Feb;38:27-32. Epub 2017 Oct 19.
    Dokuz Eylul University Faculty of Medicine, Department of Pediatric Gastroenterology, Izmir, Turkey.
    Purpose: In the early years of phenylketonuria (PKU) treatment, mothers and healthcare professionals often decide to discontinue breastfeeding after the diagnosis of PKU in infants. It was believed to be the only effective way to monitor the infant's intake and allow for precise titration and measurement of the intake of phenylalanine (Phe). In the early 1980s, with the determination of low concentration of Phe in breast milk, breast milk supplemented with Phe-free formula has become an acceptable dietary treatment for infants with PKU. Read More

    Generation of integration-free induced pluripotent stem cell line (NJMUi001-A) from a phenylketonuria patient.
    Stem Cell Res 2017 Dec 10;25:179-182. Epub 2017 Nov 10.
    State Key Laboratory of Reproductive Medicine, Department of Prenatal Diagnosis, Obstetrics and Gynecology Hospital Affiliated to Nanjing Medical University, Nanjing 210004, China. Electronic address:
    PKU is a prevalent type of inherited metabolic disease, caused by the defective phenylalanine metabolism. In most PKU cases, mutations in the PAH gene could be found. Dysfunction of this hepatic enzyme will lead to diverse clinical symptoms due to a failure in converting phenylalanine into tyrosine. Read More

    [Bone metabolism in adults with phenylketonuria - Hungarian data].
    Orv Hetil 2017 Nov;158(47):1868-1872
    II. Belgyógyászati Klinika, Semmelweis Egyetem, Általános Orvostudományi Kar Budapest, Szentkirályi u. 46., 1088.
    Introduction: Patients with phenylketonuria have lower bone mineral density compared to healthy people, however, the ethiology of these alterations is not clear. Hungarian data were missing in this topic.

    Aim: The main aim of our study was to survey the correlation between metabolic control and change of bone mineral density in early treated Hungarian adult patients with phenylketonuria. Read More

    [Adult phenylketonuria].
    Orv Hetil 2017 Nov;158(47):1857-1863
    II. Belgyógyászati Klinika, Semmelweis Egyetem, Általános Orvostudományi Kar Budapest, Szentkirályi u. 46., 1084.
    Starting from 1975 phenylketonuria is part of the newborn screening program in Hungary. Since then a generation, treated with special diet and medical foods right after neonatal diagnosis has reached adulthood. Thanks to early treatment initiation, children with phenylketonuria are able to lead life to the full. Read More

    Structural elucidation of novel biomarkers of known metabolic disorders based on multistage fragmentation mass spectra.
    J Inherit Metab Dis 2017 Nov 14. Epub 2017 Nov 14.
    Translational Metabolic Laboratory - 830 TML, Department of Laboratory Medicine, Radboud University Medical Centre, Geert Grooteplein 10, 6525, GA, Nijmegen, the Netherlands.
    Specific diagnostic markers are the key to effective diagnosis and treatment of inborn errors of metabolism (IEM). Untargeted metabolomics allows for the identification of potential novel diagnostic biomarkers. Current separation techniques coupled to high-resolution mass spectrometry provide a powerful tool for structural elucidation of unknown compounds in complex biological matrices. Read More

    A facile method for urinary phenylalanine measurement on paper-based lab-on-chip for PKU therapy monitoring.
    Analyst 2017 Dec;142(24):4629-4632
    Azienda Ospedaliero Universitaria Policlinico Vittorio Emanuele, Via S. Sofia 78, Catania, Italy.
    A miniaturized paper-based lab-on-chip (LoC) was developed for the facile measurement of urinary Phe (phenylalanine) level on PKU (Phenylketonuria) treated patient. This system permits the monitoring of Phe in a dynamic range concentration of 20-3000 μM. Read More

    Neuropsychological profile in parents of adult phenylketonuria patients.
    Neurol Sci 2018 Jan 9;39(1):161-164. Epub 2017 Nov 9.
    Department of Psychology, University of Campania "Luigi Vanvitelli", Caserta, Italy.
    Phenylketonuria (PKU) is a disorder caused by an inborn error of metabolism, causing cognitive and behavioral disorders when not treated. Heterozygotes (i.e. Read More

    The influence of parental food preference and neophobia on children with phenylketonuria (PKU).
    Mol Genet Metab Rep 2018 Mar 31;14:10-14. Epub 2017 Oct 31.
    Birmingham Women's and Children's Hospital NHS Foundation Trust, United Kingdom.
    Background: In a previous case-control study, we demonstrated that children with PKU and non-PKU controls preferred sweet foods. Additionally, children with PKU exhibited food neophobia, with no preference for bitter tasting foods associated with the taste of phenylalanine (Phe)-free L-amino acid supplements.

    Objective: In an observational extension study, we evaluated the influence of parental food choice and neophobia on their children's taste preferences and food neophobia. Read More

    Subclinical executive function impairment in children with asymptomatic, treated phenylketonuria: A comparison with children with immunodeficiency virus.
    Cogn Neuropsychol 2017 Nov 9:1-9. Epub 2017 Nov 9.
    a Department of General Psychology , University of Padua , Padua , Italy.
    In this study we compared the neuropsychological profile of phenylketonuria (PKU) and human immunodeficiency virus (HIV) to examine the specificity of the executive function (EF) impairment reported in these two patologies. A total of 55 age-matched children and adolescents were assessed, including 11 patients with PKU, 16 patients with HIV and 28 healthy controls, underwent a neuropsychological assessment. Although neither the PKU nor the HIV group scored below the normative ranges, both groups showed lower scores in neuropsychological tests engaging EFs than controls. Read More

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