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    7512 results match your criteria Phenylketonuria

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    Organic anion transporters, OAT1 and OAT3, are crucial biopterin transporters involved in bodily distribution of tetrahydrobiopterin and exclusion of its excess.
    Mol Cell Biochem 2017 May 22. Epub 2017 May 22.
    Department of Anatomy, Nihon University School of Dentistry, 1-8-13, Kanda-Surugadai, Chiyoda, Tokyo, 101-8310, Japan.
    Tetrahydrobiopterin (BH4) is a common coenzyme of phenylalanine-, tyrosine-, and tryptophan hydroxylases, alkylglycerol monooxygenase, and NO synthases (NOS). Synthetic BH4 is used medicinally for BH4-responsive phenylketonuria and inherited BH4 deficiency. BH4 supplementation has also drawn attention as a therapy for various NOS-related cardio-vascular diseases, but its use has met with limited success in decreasing BH2, the oxidized form of BH4. Read More

    Genetically engineered probiotic for the treatment of phenylketonuria (PKU); assessment of a novel treatment in vitro and in the PAHenu2 mouse model of PKU.
    PLoS One 2017 17;12(5):e0176286. Epub 2017 May 17.
    Department of Biological Sciences, University of North Texas, Denton, Texas, United States of America.
    Phenylketonuria (PKU) is a genetic disease characterized by the inability to convert dietary phenylalanine to tyrosine by phenylalanine hydroxylase. Given the importance of gut microbes in digestion, a genetically engineered microbe could potentially degrade some ingested phenylalanine from the diet prior to absorption. To test this, a phenylalanine lyase gene from Anabaena variabilis (AvPAL) was codon-optimized and cloned into a shuttle vector for expression in Lactobacillus reuteri 100-23C (pHENOMMenal). Read More

    Partial rescue of neuropathology in the murine model of PKU following administration of recombinant phenylalanine ammonia lyase (pegvaliase).
    Mol Genet Metab 2017 Apr 29. Epub 2017 Apr 29.
    King's College London, Institute of Psychiatry, Psychology & Neuroscience, Maurice Wohl Clinical Neuroscience Institute, 5 Cutcombe Road, London SE5 9RX, UK. Electronic address:
    Pegylated recombinant phenylalanine ammonia lyase (pegvaliase) is an enzyme substitution therapy being evaluated for the treatment of phenylketonuria (PKU). PKU is characterized by elevated plasma phenylalanine, which is thought to lead to a deficiency in monoamine neurotransmitters and ultimately, neurocognitive dysfunction. A natural history evaluation in a mouse model of PKU demonstrated a profound decrease in tyrosine hydroxylase (TH) immunoreactivity in several brain regions, beginning at 4weeks of age. Read More

    Class enzyme-based motors for "on the fly" enantiomer analysis of amino acids.
    Biosens Bioelectron 2017 May 6;96:275-280. Epub 2017 May 6.
    Department of Analytical Chemistry, Physical Chemistry and Chemical Engineering, Faculty of Biology, Environmental Sciences and Chemistry, University of Alcalá, 28871 Alcalá de Henares, Madrid, Spain. Electronic address:
    Here, two class-enzyme motors are properly designed allowing the rapid dispersion of the class-enzyme D-amino acid oxidase (DAO) and L-amino acid oxidase (LAO) for selective "on the fly" biodetection of D and L-amino acids (AAs), respectively. The efficient movement together with the continuous release of fresh class-enzyme leads to a greatly accelerated enzymatic reaction processes without the need of external stirring or chemical and physical attachment of the enzyme. Ultra-fast detection (<2min) and accurate quantifications of L-phenylalanine (L-Phe) in plasma and whole-blood newborns samples diagnosed with Phenylketonuria and total D-AAs in Vibrio cholera cultures are pioneer illustrated as relevant examples of each enantiomer determination. Read More

    Neuropsychological assessment among children and adolescents with phenylketonuria and hyperphenylalaninemia and its relationship with plasma phenylalanine levels.
    Arch Argent Pediatr 2017 Jun;115(3):267-273
    Hospital Universitario Río Hortega, Servicio de Pediatría, Valladolid (España).
    Although with early treatment phenylketonuria patients may have average intelligence levels, it is important to optimize the nutritional management to maintain adequate phenylalanine levels, so that patients can develop their intellectal potential free of abnormalities in their daily activities due to deficits of cognitive executive functions. This study presents a series of 26 patients, diagnosed and treated early, who underwent a psychometric evaluation together with phenylalanine determinations along their lives, and at the time of doing the tests. A trend is observed towards a reverse relationship between IQ and concurrent phenylalanine concentration, phenylalanine median and phenylalanine/tyrosine ratio. Read More

    Treatment adherence during childhood in individuals with phenylketonuria: Early signs of treatment discontinuation.
    Mol Genet Metab Rep 2017 Jun 28;11:54-58. Epub 2017 Apr 28.
    Laboratory of Genetics and Metabolic Disease of INTA, Universidad de Chile, Chile.
    Introduction: Phenylketonuria (PKU) is an autosomal recessive disorder characterized by a deficiency in phenylalanine (Phe) hydroxylase activity. Early diagnosis and continuous treatment with a low Phe diet prevents severe neurological and cognitive impairment.

    Aims: 1. Read More

    Sleep Disturbances in Phenylketonuria: An Explorative Study in Men and Mice.
    Front Neurol 2017 26;8:167. Epub 2017 Apr 26.
    Molecular Neurobiology, Groningen Institute for Evolutionary Life Sciences (GELIFES), University of Groningen, Groningen, Netherlands.
    Sleep problems have not been directly reported in phenylketonuria (PKU). In PKU, the metabolic pathway of phenylalanine is disrupted, which, among others, causes deficits in the neurotransmitters and sleep modulators dopamine, norepinephrine, and serotonin. Understanding sleep problems in PKU patients may help explain the pathophysiology of brain dysfunction in PKU patients. Read More

    Reduced bone mineral density in Chinese children with phenylketonuria.
    J Pediatr Endocrinol Metab 2017 May 9. Epub 2017 May 9.
    .
    Background: Phenylketonuria (PKU) is an autosomal recessive metabolic disorder. Dietary control of classic PKU needs restriction of natural proteins. The diet results in unbalanced nutrition, which might affect the physical development of the patients. Read More

    Psychological and psychosocial implications for parenting a child with phenylketonuria: a systematic review.
    Minerva Pediatr 2017 May 4. Epub 2017 May 4.
    Clinical Psychology, Department of Health Sciences, University of Milan, Milan, Italy.
    Introduction: Since phenylketonuria (PKU) appears to have specificities that might challenge the parents' adaptation and well-being, the present review aimed to evaluate the impact of parenting a child with PKU on parents' psychological and psychosocial functioning.

    Evidence Acquisition: A systematic electronic search was conducted using PubMED, Scopus, Embase, PsychInfo, Google Scholar and Cochrane Database to identify studies exploring psychological and psychosocial issues of parents of PKU children. The search retrieved 427 articles to review against inclusion criteria; a total of 17 studies were included in the review. Read More

    Unbalance between Excitation and Inhibition in Phenylketonuria, a Genetic Metabolic Disease Associated with Autism.
    Int J Mol Sci 2017 04 29;18(5). Epub 2017 Apr 29.
    Department of Psychology, "Daniel Bovet", Neurobiology Research Center, Sapienza University of Rome, 00185 Rome, Italy.
    Phenylketonuria (PKU) is the most common genetic metabolic disease with a well-documented association with autism spectrum disorders. It is characterized by the deficiency of the phenylalanine hydroxylase activity, causing plasmatic hyperphenylalaninemia and variable neurological and cognitive impairments. Among the potential pathophysiological mechanisms implicated in autism spectrum disorders is the excitation/inhibition (E/I) imbalance which might result from alterations in excitatory/inhibitory synapse development, synaptic transmission and plasticity, downstream signalling pathways, and intrinsic neuronal excitability. Read More

    Genetic Discoveries Highlight Environmental Factors as Key Drivers of Liver Disease.
    Dig Dis 2017 3;35(4):323-333. Epub 2017 May 3.
    Centre for Liver Research and National Institute for Health Research (NIHR) Birmingham Liver Biomedical Research Unit, College of Medical and Dental Sciences, Institute of Immunology and Immunotherapy, University of Birmingham, Birmingham, UK.
    Background: Over the last 50 years, genetic studies have uncovered a spectrum of rare and common alleles that confer susceptibility to both Mendelian and complex forms of liver disease. For disorders of Mendelian inheritance, identification of the causal variants has demonstrated that common environmental exposures can elicit severe liver pathogenesis in predisposed individuals. Specific environmental triggers for complex liver disorders are largely unknown; however, large-scale association studies indicate that environmental triggers are the predominant factors in driving liver pathophysiology. Read More

    Newborn screening by matrix-assisted laser desorption/ionization mass spectrometry based on parylene-matrix chip.
    Anal Biochem 2017 Apr 29;530:31-39. Epub 2017 Apr 29.
    Department of Materials Sciences and Engineering, Yonsei University, Seoul, South Korea. Electronic address:
    Newborn screening for diagnosis of phenylketonuria, homocystinuria, and maple syrup urine disease have been conducted by analyzing the concentration of target amino acids using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-ToF MS) based on parylene-matrix chip. Parylene-matrix chip was applied to MALDI-ToF MS analysis reducing the matrix peaks significantly at low mass-to-charge ratio range (m/z < 500). Reproducibility of inter-spot and intra-spot analyses of amino acids was less than 10%. Read More

    Health-promoting ingredients from four selected Azorean macroalgae.
    Food Res Int 2016 Nov 10;89(Pt 1):432-438. Epub 2016 Aug 10.
    Research Center for Agricultural Technology (CITA-A), Department of Technological Sciences and Development (DCTD), University of Azores, 9501-801 Ponta Delgada, S. Miguel, Azores, Portugal.
    This study presents, for the first time, the nutritional and health promoting aspects of four selected Azorean macroalgae (Ulva compressa, Ulva rigida, Gelidium microdon and Pterocladiella capillacea) in terms of total lipids, fatty acids (FA) profile, n6/n3 and hypocholesterolemic (h)/hypercholesterolemic (H) FA ratios, minerals, total essential amino acids (AA), anti-ageing and anti-phenylketonuria AA content, coenzyme Q10, α-tocopherol, total phenolics, antioxidant properties and energy value, on a dry weight basis. The results revealed low lipid content (1.02-4. Read More

    Work activity and phenylalanine levels in a population of young adults with classic PKU.
    Med Lav 2017 Apr 21;108(2):118-122. Epub 2017 Apr 21.
    Università degli Studi di Milano Bicocca.
    Background: Phenylketonuria (PKU) is an inborn error of metabolism characterized by increased blood concentrations of phenylalanine (Phe).

    Objectives: The aim of the present study was to assess the association between the metabolic compliance of adult patients affected by classic PKU and the characteristics of their present and past occupations.

    Methods: The study population consisted of working adults, affected by classic PKU, and following a dietary treatment. Read More

    Nutritional status in patients with phenylketonuria using glycomacropeptide as their major protein source.
    Eur J Clin Nutr 2017 Apr 12. Epub 2017 Apr 12.
    Centro de Genética Médica, Centro Hospitalar do Porto (CHP), Porto, Portugal.
    Background/objectives: Low phenylalanine (PHE), glycomacropeptide-based protein substitute (GMP) is an alternative to traditional L-amino acid supplements (AA) used in the dietary management of phenylketonuria (PKU). In a retrospective, longitudinal study, we report the nutritional status of PKU patients taking AA and GMP.

    Subjects/methods: Eleven PKU patients aged 27±10 years (1 HPA, 4 mild and 6 classical PKU) on dietary treatment were evaluated (anthropometry, body composition, blood pressure measurements, biochemical markers including vitamin, mineral, lipids, carbohydrates and protein status/metabolism, and nutritional intake assessment) at two different annual reviews. Read More

    Metabolomic changes demonstrate reduced bioavailability of tyrosine and altered metabolism of tryptophan via the kynurenine pathway with ingestion of medical foods in phenylketonuria.
    Mol Genet Metab 2017 Apr 6. Epub 2017 Apr 6.
    Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.
    Background: Deficiencies of the monoamine neurotransmitters, such as dopamine synthesized from Tyr and serotonin synthesized from Trp, are of concern in PKU. Our objective was to utilize metabolomics analysis to assess monoamine metabolites in subjects with PKU consuming amino acid medical foods (AA-MF) and glycomacropeptide medical foods (GMP-MF).

    Methods: Subjects with PKU consumed a low-Phe diet combined with AA-MF or GMP-MF for 3weeks each in a randomized, controlled, crossover study. Read More

    Obstetric care in women with genetic disorders.
    Best Pract Res Clin Obstet Gynaecol 2017 Mar 18. Epub 2017 Mar 18.
    Department of Obstetrics, Gynecology and Reproductive Sciences, 550 16th St, 7th Floor, University of California, San Francisco, CA 94143, USA.
    The management of pregnant women who are themselves affected with genetic diseases is an increasingly relevant and important issue. Improvements in early diagnosis and management of genetic disease, as well as advances in assisted reproductive technology have impacted pregnancy rates in a cohort of women who may not have otherwise been able to conceive. A multidisciplinary approach is key to the management of pregnant women with complex health conditions, including genetic diseases. Read More

    DNA methylated alleles of the phenylalanine hydroxylase promoter remodeled at elevated phenylalanine levels in newborns with hyperphenylalaninemia.
    Clin Biochem 2017 Apr 4. Epub 2017 Apr 4.
    Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Währinger Gürtel 18-20, Vienna, Austria.
    Objectives: Although high phenylalanine (phe) exposure has been shown to influence the DNA methylation status of leukocytes in hyperphenylalaninemia (HPA), the potential of DNA methylation changes as a biomarker of pretreatment high phe exposure in diet free newborns with HPA has not been explored. We therefore investigated the DNA methylation pattern of the phenylalanine hydroxylase (PAH) gene promoter at different phe levels, and the possibility of DNA methylation pattern changes being a biomarker of high phe exposure in diet free newborns with HPA.

    Design And Methods: With a combination of methylated PCR, high resolution melting, and sequencing, the cytosine phosphodiester bond guanine (CpG) dinucleotides in the 5' untranslated region of the PAH gene were analysed 2-15days after birth using leukocyte DNA from diet free 16 newborns with HPA and 16 healthy controls. Read More

    A child with phenylketonuria and focal segmental glomerulosclerosis, the bright side of proteinuria.
    Metab Brain Dis 2017 Apr 7. Epub 2017 Apr 7.
    Child Health Department, Sultan Qaboos University Hospital, PO Box 38, Al-Khoud 123, Muscat, Oman.
    Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism. Phenylalanine hydroxylase is the underlying deficient enzyme. If left untreated, growth failure, microcephaly, global developmental delay, seizures and severe intellectual impairment would characterize the clinical picture of PKU. Read More

    Treatment Adherence and Psychological Wellbeing in Maternal Carers of Children with Phenylketonuria (PKU).
    JIMD Rep 2017 Apr 6. Epub 2017 Apr 6.
    Division of Psychology and Mental Health, School of Health Sciences, University of Manchester, Manchester, UK.
    Phenylketonuria (PKU), a rare metabolic disorder, causes cognitive impairment unless treated with a strict, protein-restricted diet, but few studies have examined the relationship between treatment compliance and parental wellbeing. In the present study, 46 primary caregivers of children with PKU completed measures of psychological distress, parenting stress (related to caring for a child with an illness), resilience, perceived social support and child dependency. Treatment adherence was assessed using the proportion of blood phenylalanine concentrations within target range in the preceding year. Read More

    Modulating the pH Activity Profiles of Phenylalanine Ammonia Lyase from Anabaena variabilis by Modification of Center-Near Surface Residues.
    Appl Biochem Biotechnol 2017 Mar 25. Epub 2017 Mar 25.
    Key Laboratory of Industrial Biotechnology, Ministry of Education, Jiangnan University, Wuxi, 214122, China.
    Phenylalanine ammonia lyase from Anabaena variabilis (Av-PAL) is a candidate for the treatment of phenylketonuria (PKU). However, Av-PAL shows its optimal pH at 8.5 and maintains only 70% of its highest activity when pH decreases to 7. Read More

    Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria.
    Ann Nutr Metab 2017 24;70(2):111-121. Epub 2017 Mar 24.
    Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, Amsterdam, The Netherlands.
    Introduction: In phenylketonuria (PKU), a natural protein-restricted dietary treatment prevents severe cognitive impairment. Nutrient deficiencies may occur due to strict diet. This study is aimed at evaluating the dietary intake and blood concentrations of micronutrients and essential fatty acids (FA), bone mineral density (BMD) and fracture history in patients on long-term dietary treatment. Read More

    Impact of phenylketonuria type meal on appetite, thermic effect of feeding and postprandial fat oxidation.
    Clin Nutr 2017 Mar 8. Epub 2017 Mar 8.
    School of Medicine, Dentistry and Nursing, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, UK. Electronic address:
    Background: Dietary management of phenylketonuria (PKU) requires the replacement of natural protein-containing foods with special low protein foods. The effect of a PKU type diet on factors contributing to energy balance requires investigation.

    Objective: To investigate the impact of a PKU type meal on appetite ratings, gut appetite hormones, thermic effect of feeding (TEF) and fat oxidation. Read More

    Cognitive profile and mental health in adult phenylketonuria: A PKU-COBESO study.
    Neuropsychology 2017 May 20;31(4):437-447. Epub 2017 Mar 20.
    Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen.
    Objective: Despite early dietary treatment phenylketonuria patients have lower IQ and poorer executive functions compared to healthy controls. Cognitive problems in phenylketonuria have often been associated with phenylalanine levels. The present study examined the cognitive profile and mental health in adult phenylketonuria, in relation to phenylalanine levels and tetrahydrobiopterin treatment. Read More

    Effects of Short-Term Calcium Supplementation in Children and Adolescents with Phenylketonuria.
    J Clin Densitom 2017 Mar 13. Epub 2017 Mar 13.
    Faculty of Medicine of Ribeirao Preto, University of São Paulo, Ribeirão Preto, São Paulo, Brazil.
    Reduction of bone mineral density and the risk of osteopenia have been reported to occur in phenylketonuria (PKU) patients. This study aimed to evaluate the short-term effects of calcium supplementation in phenylketonuric children and adolescents. The study included 18 patients with PKU aged 5-18 yr (61% male) under clinical and nutritional treatment. Read More

    Hyperphenylalaninemia Correlated with Global Decrease of Antioxidant Genes Expression in White Blood Cells of Adult Patients with Phenylketonuria.
    JIMD Rep 2017 Mar 15. Epub 2017 Mar 15.
    Service de médecine interne, CHRU de Tours, Tours, France.
    Background: Several studies have highlighted disturbance of redox homeostasis in patients with phenylketonuria (PKU) which may be associated with neurological disorders observed in patients, especially during adulthood when phenylalanine restrictive diets are not maintained. The aim of this study was to assess the antioxidant profile in a cohort of PKU patients in comparison to the controls and to evaluate its relation to biochemical parameters especially phenylalaninemia.

    Methods: We measured RNA expression of 22 antioxidant genes and reactive oxygen species (ROS) levels in white blood cells of 10 PKU patients and 10 age- and gender-matched controls. Read More

    Neuropsychiatric comorbidities in adults with phenylketonuria: A retrospective cohort study.
    Mol Genet Metab 2017 May 6;121(1):1-8. Epub 2017 Mar 6.
    Department of Psychiatry, Drexel University, College of Medicine, Philadelphia, PA, USA; Department of Pediatrics, Drexel University, College of Medicine, Philadelphia, PA, USA.
    Adults with phenylketonuria (PKU) may experience neurologic and psychiatric disorders, including intellectual disability, anxiety, depression, and neurocognitive dysfunction. Identifying the prevalence and prevalence ratios of these conditions will inform clinical treatment. This nested, case-controlled study used International Classification of Diseases, Ninth Revision (ICD-9) codes from the MarketScan® insurance claims databases from 2006 to 2012 and healthcare claims data for US-based employer and government-sponsored health plans. Read More

    Impaired Neurotransmission in Early-treated Phenylketonuria Patients.
    Semin Pediatr Neurol 2016 Nov 9;23(4):332-340. Epub 2016 Nov 9.
    From the *Department of Neurology, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Hospital Sant Joan de Déu, Barcelona, Spain; Centre for Biomedical Research on Rare Diseases (CIBERER), Institute of Health Carlos III, Madrid, Spain.
    Cerebral neurotransmitter (NT) deficiency has been suggested as a contributing factor in the pathophysiology of brain dysfunction in phenylketonuria (PKU), even in early-treated phenylketonuric patients. The study aimed to review dopamine and serotonin status in PKU, and the effect of the impaired neurotransmission. Several mechanisms are involved in the pathophysiology of PKU, primarily characterized by impaired dopamine and serotonin synthesis. Read More

    Neonatal Screening for Inherited Metabolic Diseases in 2016.
    Semin Pediatr Neurol 2016 Nov 16;23(4):257-272. Epub 2016 Nov 16.
    From the Seccción de Errores Congénitos del Metabolismo-IBC, Servicio de Bioquímica y Genética Molecular, Hospital ClinicHospital Clínic, CIBERER, IDIBAPS, Barcelona, Spain. Electronic address:
    The scope of newborn screening (NBS) programs is continuously expanding. NBS programs are secondary prevention interventions widely recognized internationally in the "field of Public Health." These interventions are aimed at early detection of asymptomatic children affected by certain diseases, with the objective to establish a definitive diagnosis and apply the proper treatment to prevent further complications and sequelae and ensure a better quality of life. Read More

    Formulation and PEGylation optimization of the therapeutic PEGylated phenylalanine ammonia lyase for the treatment of phenylketonuria.
    PLoS One 2017 10;12(3):e0173269. Epub 2017 Mar 10.
    BioMarin Pharmaceutical, Novato, California, United States of America.
    Phenylketonuria (PKU) is a genetic metabolic disease in which the decrease or loss of phenylalanine hydroxylase (PAH) activity results in elevated, neurotoxic levels of phenylalanine (Phe). Due to many obstacles, PAH enzyme replacement therapy is not currently an option. Treatment of PKU with an alternative enzyme, phenylalanine ammonia lyase (PAL), was first proposed in the 1970s. Read More

    Development of the US English version of the phenylketonuria - quality of life (PKU-QOL) questionnaire.
    Health Qual Life Outcomes 2017 Mar 9;15(1):46. Epub 2017 Mar 9.
    Mapi Research Trust, 27 rue de la Villette, Lyon, 69003, France.
    Background: Phenylketonuria (PKU) is a rare genetic disorder caused by a defect in the metabolism of phenylalanine (PHE) resulting in elevated blood and brain PHE levels, and leading to cognitive, emotional, and psychosocial problems. The phenylketonuria - quality of life (PKU-QOL) questionnaire was the first self-administered disease-specific instrument developed to assess the impact of PKU and its treatment on the health-related quality of life (HRQL) of patients and their caregivers. Available in four versions (child, adolescent, adult and parent), the PKU-QOL was simultaneously developed and validated in seven countries [i. Read More


    Pretreatment cognitive and neural differences between sapropterin dihydrochloride responders and non-responders with phenylketonuria.
    Mol Genet Metab Rep 2017 Sep 23;12:8-13. Epub 2017 Feb 23.
    Department of Psychological and Brain Sciences, Campus Box 1125, Washington University, St. Louis, MO 63130, USA; Department of Pediatrics, Campus Box 8116, Washington University School of Medicine, St. Louis, MO 63110, USA.
    Sapropterin dihydrochloride (BH4) reduces phenylalanine (Phe) levels and improves white matter integrity in a subset of individuals with phenylketonuria (PKU) known as "responders." Although prior research has identified biochemical and genotypic differences between BH4 responders and non-responders, cognitive and neural differences remain largely unexplored. To this end, we compared intelligence and white matter integrity prior to treatment with BH4 in 13 subsequent BH4 responders with PKU, 16 subsequent BH4 non-responders with PKU, and 12 healthy controls. Read More

    The impact of phenylalanine levels on cognitive outcomes in adults with phenylketonuria: Effects across tasks and developmental stages.
    Neuropsychology 2017 Mar;31(3):242-254
    Queen Elizabeth Hospital.
    Objective: Phenylketonuria (PKU) is due to an inability to metabolize the amino acid phenylalanine (Phe), leading to its accumulation in the brain. Phe levels can be controlled following a protein-free diet, but cognitive impairments are still present. A number of questions remain to be answered related to which type of metabolic control is important, the age when it is important, the cognitive functions which are most affected and, the best tests to use to monitor cognitive health. Read More

    Sapropterin treatment does not enhance the health-related quality of life of patients with phenylketonuria and their parents.
    Acta Paediatr 2017 Jun 19;106(6):953-959. Epub 2017 Mar 19.
    Department of General Pediatrics, Münster University Children's Hospital, Münster, Germany.
    Aim: Sapropterin causes reductions in blood phenylalanine concentrations in sensitive patients with phenylketonuria (PKU). We examined whether the subsequent relaxation of dietary restrictions influenced the quality of life (QoL) of patients and parents.

    Methods: The study cohort comprised 112 patients with PKU followed at the metabolic centre at Münster University Children's Hospital, Germany, from 2012 to 2015. Read More

    Clinical characteristics of adult patients with inborn errors of metabolism in Spain: A review of 500 cases from university hospitals.
    Mol Genet Metab Rep 2017 Mar 3;10:92-95. Epub 2017 Feb 3.
    Servicio de Medicina Interna, Hospital Universitario Ramón y Cajal, CSUR de Errores Congénitos del Metabolismo, Madrid, Spain.
    Patients with inborn errors of metabolism (IEMs) have become an emerging and challenging group in the adult healthcare system whose needs should be known in order to implement appropriate policies and to adapt adult clinical departments. We aimed to analyze the clinical characteristics of adult patients with IEMs who attend the most important Spanish hospitals caring for these conditions. A cohort study was conducted in 500 patients, categorized by metabolic subtype according to pathophysiological classification. Read More

    Risk Factors for Birth Defects.
    Obstet Gynecol Surv 2017 Feb;72(2):123-135
    Professor, Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Duke University School of Medicine, Durham, NC.
    Importance: Major congenital abnormalities, or birth defects, carry significant medical, surgical, cosmetic, or lifestyle consequences. Such abnormalities may be syndromic, involving multiple organ systems, or can be isolated. Overall, 2% to 4% of live births involve congenital abnormalities. Read More

    Mutation Analysis in Classical Phenylketonuria Patients Followed by Detecting Haplotypes Linked to Some PAH Mutations.
    Clin Lab 2017 Feb;63(2):295-300
    Background: Deficiency of phenylalanine hydroxylase (PAH) enzyme and elevation of phenylalanine in body fluids cause phenylketonuria (PKU). The gold standard for confirming PKU and PAH deficiency is detecting causal mutations by direct sequencing of the coding exons and splicing involved sequences of the PAH gene. Furthermore, haplotype analysis could be considered as an auxiliary approach for detecting PKU causative mutations before direct sequencing of the PAH gene by making comparisons between prior detected mutation linked-haplotypes and new PKU case haplotypes with undetermined mutations. Read More

    Subtle visuomotor deficits and reduced benefit from practice in early treated phenylketonuria.
    J Clin Exp Neuropsychol 2017 Feb 6:1-10. Epub 2017 Feb 6.
    a Experimental Psychology & Brain Disorders Laboratory , Fundació Sant Joan de Déu, Hospital Sant Joan de Déu , Esplugues de Llobregat, Barcelona , Spain.
    Introduction: Phenylketonuria (PKU) is a rare metabolic disease that causes slight-to-severe neurological symptoms. Slow performance has been observed in PKU but the influence of high-order (i.e. Read More

    Adherence to clinic recommendations among patients with phenylketonuria in the United States.
    Mol Genet Metab 2017 Mar 6;120(3):190-197. Epub 2017 Jan 6.
    Medical Affairs, BioMarin Pharmaceutical, Inc., Novato, CA, United States.
    Objective: Assess current management practices of phenylketonuria (PKU) clinics across the United States (US) based on the key treatment metrics of blood phenylalanine (Phe) concentrations and blood Phe testing frequency, as well as patient adherence to their clinic's management practice recommendations.

    Methods: An online survey was conducted with medical professionals from PKU clinics across the US from July to September 2015. Forty-four clinics participated in the survey and account for approximately half of PKU patients currently followed in clinics in the US (Berry et al. Read More

    Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.
    Am J Hum Genet 2017 Feb 26;100(2):257-266. Epub 2017 Jan 26.
    UMR1141, PROTECT, INSERM, Université Paris Diderot, Sorbonne Paris Cité, Paris 75019, France; Reference Center for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, Paris 75019, France. Electronic address:
    Phenylketonuria (PKU, phenylalanine hydroxylase deficiency), an inborn error of metabolism, can be detected through newborn screening for hyperphenylalaninemia (HPA). Most individuals with HPA harbor mutations in the gene encoding phenylalanine hydroxylase (PAH), and a small proportion (2%) exhibit tetrahydrobiopterin (BH4) deficiency with additional neurotransmitter (dopamine and serotonin) deficiency. Here we report six individuals from four unrelated families with HPA who exhibited progressive neurodevelopmental delay, dystonia, and a unique profile of neurotransmitter deficiencies without mutations in PAH or BH4 metabolism disorder-related genes. Read More

    Investigation of Fibril Forming Mechanisms of l-Phenylalanine and l-Tyrosine: Microscopic Insight toward Phenylketonuria and Tyrosinemia Type II.
    J Phys Chem B 2017 Feb 8;121(7):1533-1543. Epub 2017 Feb 8.
    Department of Chemistry, Indian Institute of Technology , Kharagpur 721302, WB, India.
    Phenylketonuria and tyrosinemia type II, the two metabolic disorders, are originated due to the complications in metabolism of phenylalanine (Phe) and tyrosine (Tyr), respectively. Several neurological injuries, involving microcephaly, mental retardation, epilepsy, motor disease, and skin problems etc., are the symptoms of these two diseases. Read More

    Construction of different calibration models by FTIR/ATR spectra and their application in screening of phenylketonuria.
    Spectrochim Acta A Mol Biomol Spectrosc 2017 Apr 10;177:33-40. Epub 2017 Jan 10.
    School of Traditional Chinese Medicine, Guangdong Pharmaceutical University, Guangzhou 510006, PR China; The Key Unit of Chinese Medicine Digitalization Quality Evaluation of SATCM, Guangzhou 510006, PR China; The Research Center for Quality Engineering Technology of Traditional Chinese Medicine in Guangdong Universities, Guangzhou 510006, PR China.
    Objective: To construct different calibration models by using FTIR/ATR spectra and apply them for the screening of phenylketonuria for the newborns.

    Method: 69 dried blood spots samples were collected, of which the concentrations of phenylalanine (Phe) and tyrosine (Tyr) were determined by tandem mass spectrometry method. The FTIR/ATR method was used to collect the spectra of the samples. Read More

    Glycomacropeptide in children with phenylketonuria: does its phenylalanine content affect blood phenylalanine control?
    J Hum Nutr Diet 2017 Jan 22. Epub 2017 Jan 22.
    Birmingham Children's Hospital, Dietetic Department, Birmingham, UK.
    Background: In phenylketonuria (PKU), there are no data available for children with respect to evaluating casein glycomacropeptide (CGMP) as an alternative to phenylalanine-free protein substitutes [Phe-free L-amino acid (AA)]. CGMP contains a residual amount of phenylalanine, which may alter blood phenylalanine control.

    Methods: In a prospective 6-month pilot study, we investigated the effect on blood phenylalanine control of CGMP-amino acid (CGMP-AA) protein substitute in 22 PKU subjects (13 boys, nine girls), median age (range) 11 years (6-16 years). Read More

    Development of a new UPLC-ESI-MS/MS method for the determination of biopterin and neopterin in dried blood spot.
    Clin Chim Acta 2017 Mar 18;466:145-151. Epub 2017 Jan 18.
    Department of Experimental Medicine, Sapienza University of Rome, Viale del Policlinico 155, 00161 Rome, Italy. Electronic address:
    Background: (6R)-5,6,7,8-tetrahydrobiopterin (BH4) deficiencies are rare inherited defects of synthesis or regeneration of BH4. Due to the resulting hyperphenylalaninemia (HPA), some of them are detected by newborn screening and require the assessment of the pattern of neopterin (Neo) and biopterin (Bio) excretion in urine to be confirmed. Aim of present study was to develop a method for the measurement of these diagnostic biomarkers in dried blood spot (DBS). Read More

    Key European guidelines for the diagnosis and management of patients with phenylketonuria.
    Lancet Diabetes Endocrinol 2017 Jan 9. Epub 2017 Jan 9.
    Dietetic Department, Birmingham Children's Hospital, Birmingham, UK.
    We developed European guidelines to optimise phenylketonuria (PKU) care. To develop the guidelines, we did a literature search, critical appraisal, and evidence grading according to the Scottish Intercollegiate Guidelines Network method. We used the Delphi method when little or no evidence was available. Read More

    Dietary glycemic index, glycemic load and metabolic profile in children with phenylketonuria.
    Nutr Metab Cardiovasc Dis 2017 Feb 21;27(2):176-182. Epub 2016 Nov 21.
    Department of Pediatrics, San Paolo Hospital, Department of Health Science, University of Milan, Milan 20142, Italy. Electronic address:
    Background And Aims: No data exist in the current literature on the glycemic index (GI) and glycemic load (GL) of the diet of phenylketonuric (PKU) children. The aims of this study were to examine the dietary GI and GL in PKU children on a low-phenylalanine (Phe)-diet and to evaluate whether an association may exist between the carbohydrate quality and the metabolic profile.

    Methods: Twenty-one PKU children (age 5-11 years) and 21 healthy children, gender and age matched, were enrolled. Read More

    Cognitive outcomes in early-treated adults with phenylketonuria (PKU): A comprehensive picture across domains.
    Neuropsychology 2017 Mar 12;31(3):255-267. Epub 2017 Jan 12.
    School of Life and Health Sciences, Aston University.
    Objective: Phenylketonuria (PKU) is an inherited metabolic disease which affects cognitive functions due to an inability to metabolize phenylalanine which leads to the accumulation of toxic by-products (Phe) in the brain. PKU can be effectively treated with a low phenylalanine diet, but some cognitive deficits remain. Studies have reported impairments, especially for processing speed and executive functions, but there is a lack of comprehensive assessment across cognitive domains. Read More

    Phenylketonuria is not a risk factor for changes of inflammation status as assessed by interleukin 6 and interleukin 8 concentrations.
    Acta Sci Pol Technol Aliment 2016 Apr-Jun;15(2):221-225
    Department of Pediatric Gastroenterology and Metabolic Diseases, Poznan University of Medical Sciences, Poland.
    Background: High oxidative stress and a reduced potential for free radical scavenging in phenylketonuria (PKU) patients, a phenomenon confirmed in a few studies, may lead to systemic chronic inflammation. The aim of this study was to compare the inflammation status, as assessed by interleukin 6 and interleukin 8 concentrations, in patients with PKU and in healthy controls.

    Methods: Twenty patients with classical PKU, aged 18-34 years and under dietary control, were enrolled in the study. Read More

    The Behavioral Consequence of Phenylketonuria in Mice Depends on the Genetic Background.
    Front Behav Neurosci 2016 20;10:233. Epub 2016 Dec 20.
    Molecular Neurobiology, Groningen Institute for Evolutionary Life Sciences, University of Groningen Groningen, Netherlands.
    To unravel the role of gene mutations in the healthy and the diseased state, countless studies have tried to link genotype with phenotype. However, over the years, it became clear that the strain of mice can influence these results. Nevertheless, identical gene mutations in different strains are often still considered equals. Read More

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