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Parisa Goldar, Mohammad Hadi Givianrad, Akbar Shams
Phenylketonuria (PKU) is a genetic disorder that has no cure and all patients with this disorder must adhere to a special diet to prevent the onset of symptoms and mental retardation in children. In this study, analog yoghurt with good and acceptable nutrition benefit for PKU patients was produced. Accordingly, ultrafiltered milk permeate was added at two different concentrations of 4 and 5 w/w % and non-dairy creamer at two different concentrations of 1.5 and 2 w/w %. Subsequently, pH, acidity, protein, fat, dry matter, humidity, syneresis and Phe of the yogurts were determined...
July 2016: Journal of Food Science and Technology
Kara R Vogel, Erland Arning, Teodoro Bottiglieri, K Michael Gibson
BACKGROUND: The mainstay of therapy for phenylketonuria (PKU) remains dietary protein restriction. Developmental and neurocognitive outcomes for patients, however, remain suboptimal. We tested the hypothesis that mice with PKU receiving protein-restricted diets would reveal disruptions of brain amino acids that shed light on these neurocognitive deficits. METHOD: Phenylalanine hydroxylase-deficient (PKU) mice and parallel controls (both wild-type and heterozygous) were fed custom diets containing 18, 6, and 4 % protein for 3 weeks, after which tissues (brain, liver, sera) were collected for amino acid analysis profiling...
October 19, 2016: Journal of Inherited Metabolic Disease
Ruifeng Li, Yifang Liu, Tingting Li, Cheng Li
Chromosomal rearrangement (CR) events have been implicated in many tumor and non-tumor human diseases. CR events lead to their associated diseases by disrupting gene and protein structures. Also, they can lead to diseases through changes in chromosomal 3D structure and gene expression. In this study, we search for CR-associated diseases potentially caused by chromosomal 3D structure alteration by integrating Hi-C and ChIP-seq data. Our algorithm rediscovers experimentally verified disease-associated CRs (polydactyly diseases) that alter gene expression by disrupting chromosome 3D structure...
October 13, 2016: Scientific Reports
Maryam Abiri, Saeed Talebi, Jouni Uitto, Leila Youssefian, Hassan Vahidnezhad, Tina Shirzad, Shadab Salehpour, Sirous Zeinali
Most inborn errors of metabolism (IEMs) are inherited in an autosomal recessive manner. IEMs are one of the major concerns in Iran due to its extensive consanguineous marriages. Herein, we report two patients with two co-existent IEMs: a girl affected by classic phenylketonuria (PKU) and maple syrup urine disease (MSUD) and a male patient affected with Sandhoff disease and PKU, where Sandhoff disease was suspected due to the presence of a cherry-red spot in the eyes at 6 months which is unrelated to PKU. Sequencing of candidate genes in the first patient revealed one novel and three recurrent compound heterozygous mutations of p...
October 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
Susan E Waisbren, Sanjay P Prabhu, Patricia Greenstein, Carter Petty, Donald Schomer, Vera Anastasoaie, Kalin Charette, Daniel Rodriguez, Sai Merugumala, Alexander P Lin
INTRODUCTION: Researchers hypothesized that in phenylketonuria (PKU) high brain phenylalanine (Phe) levels and low brain tyrosine (Tyr) levels affect neuropsychological functioning. However, traditional magnetic resonance spectroscopy (MRS) yielded uncertain results of brain Phe and could not adequately measure brain Tyr. This pilot study examined the potential of correlated spectroscopy (COSY) to quantify these biomarkers and explain variability in neuropsychological functioning. METHODS: Nine adults with early treated classic PKU received magnetic resonance imaging (MRI) with COSY and a battery of neuropsychological tests...
September 28, 2016: JIMD Reports
D Concolino, I Mascaro, M T Moricca, G Bonapace, K Matalon, J Trapasso, G Radhakrishnan, C Ferrara, R Matalon, P Strisciuglio
BACKGROUND/OBJECTIVES: Phenylketonuria (PKU) is an autosomal recessive disease caused by deficient activity of phenylalanine hydroxylase. A low phenylalanine (Phe) diet is used to treat PKU. The diet is very restrictive, and dietary adherence tends to decrease as patients get older. Methods to improve dietary adherence and blood Phe control are continuously under investigation. SUBJECTS/METHODS: A new formula Phe-neutral amino acid (PheLNAA) has been tested in this study with the purpose of improving the compliance and lowering blood phenylalanine...
September 14, 2016: European Journal of Clinical Nutrition
Anita MacDonald, T Alexander Smith, Shamika de Silva, Veronica Alam, Jeanni M T van Loon
INTRODUCTION: Management of phenylketonuria (PKU) is mainly achieved through strict dietary control that aims to limit the intake of phenylalanine (Phe). Adherence to this diet is burdensome due to the need for specially prepared low-Phe meals and regular monitoring of Phe concentrations. A UK cross-sectional study was conducted to identify the personal time and monetary burden associated with aspects of the PKU lifestyle for caregivers of children (aged < 18 years) living with PKU...
December 2016: Molecular Genetics and Metabolism Reports
Roberta Trunzo, Rosa Santacroce, Nan Shen, Sabine Jung-Klawitter, Angelica Leccese, Giuseppe De Girolamo, Maurizio Margaglione, Nenad Blau
Hyperphenylalaninemias (HPAs) are genetic diseases predominantly caused by a wide range of variants in the phenylalanine hydroxylase (PAH) gene. In vitro expression analysis of PAH variants offers the opportunity to elucidate the molecular mechanisms involved in HPAs and to clarify whether a disease-associated variant is genuinely pathogenic, while investigating the severity of a metabolic phenotype, and determining how a variant exerts its deleterious effects on the PAH enzyme. To study the effects of gene variants on PAH activity, we investigated eight variants: c...
December 5, 2016: Gene
María L Couce, Isidro Vitoria, Luís Aldámiz-Echevarría, Ana Fernández-Marmiesse, Iria Roca, Marta Llarena, Paula Sánchez-Pintos, Rosaura Leis, Alvaro Hermida
BACKGROUND: The mainstay of treating patients with phenylketonuria (PKU) is based on a Phe-restricted diet, restrictive in natural protein combined with Phe-free L-amino acid supplements and low protein foods. This PKU diet seems to reduce atherogenesis and confer protection against cardiovascular diseases but the results from the few published studies have been inconclusive. The aim of our study was to evaluate the relationship between the lipid profile and several treatment-related risk factors in patients with hyperphenylalaninaemia (HPA) in order to optimize their monitoring...
2016: Orphanet Journal of Rare Diseases
Aaron J O'Sullivan, Sandrine Pigat, Cian O'Mahony, Michael J Gibney, Aideen I McKevitt
The choice of suitable normal foods is limited for individuals with particular medical conditions e.g. inborn errors of metabolism (phenylketonuria, PKU) or severe cow's milk protein allergy (CMPA). Patients may have dietary restrictions and exclusive or partial replacement of specific food groups with specially formulated products to meet particular nutrition requirements. Artificial sweeteners are used to improve the appearance and palatability of such food products to avoid food refusal and ensure dietary adherence...
September 9, 2016: Food Additives & Contaminants. Part A, Chemistry, Analysis, Control, Exposure & Risk Assessment
Hong Wang, Xia Wang, Yingying Li, Wei Dai, Dongmei Jiang, Xiaodong Zhang, Yali Cui
OBJECTIVES: The aim of this study was to retrospectively diagnose and confirm inherited metabolic diseases (IMD), from a small population of IMD high-risk patients, with the aid of gas chromatography-tandem mass spectrometry (GC-MS/MS), technologies yet to be popularized in Sichuan, China. METHODS: Using GC-MS/MS coupled with clinical diagnosis, we retrospectively analyzed samples of dried blood spots and urine specimen from 183 IMD high-risk infant patients, who visited the West China Second Hospital of Sichuan University between June 2013 and October 2015...
September 6, 2016: Biomedical Chromatography: BMC
Yoshiyuki Okano, Toshikazu Hattori, Hiroki Fujimoto, Kaori Noi, Miki Okamoto, Toshiaki Watanabe, Ryoko Watanabe, Rika Fujii, Tomoko Tamaoki
Accumulating evidence suggests that hyperphenylalaninemia in phenylketonuria (PKU) can cause neuropsychological and psychosocial problems in diet-off adult patients, and that such symptoms improve after resumption of phenylalanine-restricted diet, indicating the need for lifetime low-phenylalanine diet. While limiting protein intake, dietary therapy should provide adequate daily intake of energy, carbohydrates, fat, vitamins, and microelements. We evaluated nutrient balance in 14 patients with classical PKU aged 4-38 years...
September 2016: Molecular Genetics and Metabolism Reports
Karin Pichler, Miriam Michel, Manuela Zlamy, Sabine Scholl-Buergi, Elisabeth Ralser, Monika Jörg-Streller, Daniela Karall
BACKGROUND: Published data on breast milk feeding in infants suffering from inherited metabolic disorders (IMDs) other than phenylketonuria (PKU) are limited and described outcome is variable. OBJECTIVE: We aimed to evaluate retrospectively whether breastfeeding and/or breast milk feeding are feasible in infants with IMDs including organic acidemias, fatty acid oxidation disorders, urea cycle disorders, aminoacidopathies or disorders of galactose metabolism. METHODS: Data on breastfeeding and breast milk feeding as well as monitoring and neurological outcome were collected retrospectively from our database of patients with the mentioned IMD, who were followed in our metabolic center within the last 10 years...
August 26, 2016: Journal of Perinatal Medicine
Song Li, Qiao-Ling Sun, Yi Zhou, Yue Zhang, Xun-Jia Hu, Wei-Sheng Hong, Guo-Ping Ji
OBJECTIVE: To investigate the factors influencing the quality of life (QOL) of children with phenylketonuria (PKU) in Anhui Province, China. METHODS: A total of 104 PKU children who were diagnosed and treated in three major maternal and child health hospitals in Anhui Province were enrolled as study subjects. The PedsQL™ 4.0 Generic Core Scales were used to evaluate the quality of life of these children. The multivariate logistic regression analysis was used to evaluate the factors influencing the QOL...
August 2016: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
Meng Wang, Liping Wei
Accurate prediction of the pathogenicity of genomic variants, especially nonsynonymous single nucleotide variants (nsSNVs), is essential in biomedical research and clinical genetics. Most current prediction methods build a generic classifier for all genes. However, different genes and gene families have different features. We investigated whether gene-specific and family-specific customized classifiers could improve prediction accuracy. Customized gene-specific and family-specific attributes were selected with AIC, BIC, and LASSO, and Support Vector Machine classifiers were generated for 254 genes and 152 gene families, covering a total of 5,985 genes...
2016: Scientific Reports
Shoji Yano, Kathryn Moseley, Xiaowei Fu, Colleen Azen
BACKGROUND: Phenylketonuria (PKU) is due to a defective hepatic enzyme, phenylalanine (Phe) hydroxylase. Transport of the precursor amino acids from blood into the brain for serotonin and dopamine synthesis is reported to be inhibited by high blood Phe concentrations. Deficiencies of serotonin and dopamine are involved in neurocognitive dysfunction in PKU. OBJECTIVE: (1) To evaluate the effects of sapropterin (BH4) and concurrent use of large neutral amino acids (LNAA) on the peripheral biomarkers, melatonin and dopamine with the hypothesis they reflect brain serotonin and dopamine metabolism...
2016: PloS One
Annika Ohlsson, Helene Bruhn, Anna Nordenström, Rolf H Zetterström, Anna Wedell, Ulrika von Döbeln
Newborn screening (NBS) for phenylketonuria (PKU) which has a continuum of disease severities has been performed for more than 50 years. The screening method has undergone a continuous development with not only improvements of the positive predictive value but also identification of milder forms of the disease. With the introduction of genetic testing the confirmation of the diagnosis has improved. The Swedish NBS is centralized to one laboratory, which also performs confirmatory testing.Here we present the results of NBS for PKU in Sweden during 1965-2014 describing an increase in diagnosed patients and a shift in the spectrum of phenylalanine hydroxylase (PAH) mutations towards an increasing heterogeneity...
July 28, 2016: JIMD Reports
Anna Hood, Jerrel Rutlin, Joshua S Shimony, Dorothy K Grange, Desiree A White
We tested the hypothesis that brain white matter integrity mediates the relationship between phenylalanine (Phe) control and executive abilities in children with phenylketonuria (PKU; N = 36). To do so, we examined mean diffusivity (MD) from diffusion tensor imaging (DTI) in two white matter brain regions (posterior parietal-occipital, PPO; centrum semiovale, CSO) and lifetime phenylalanine (Phe) exposure; the executive abilities examined included verbal strategic processing, nonverbal strategic processing, and working memory...
July 22, 2016: JIMD Reports
C Bruno, D Dufour-Rainfray, F Patin, P Vourch, D Guilloteau, F Maillot, F Labarthe, M Tardieu, C R Andres, P Emond, H Blasco
OBJECTIVES: Phenylketonuria (PKU) is a metabolic disorder leading to high concentrations of phenylalanine (Phe) and low concentrations of tyrosine (Tyr) in blood and brain that may be neurotoxic. This disease requires a regular monitoring of plasma Phe and Tyr as well as branched-chain amino-acids concentrations to adapt the Phe-restricted diet and other therapy that may be prescribed in PKU. We validated a Flow Injection Analysis tandem Mass Spectrometry (FIA-MS/MS) to replace the enzymatic method routinely used for neonatal screening in order to monitor in parallel to Phe, Tyr and branched-chain amino-acids not detected by the enzymatic method...
September 2016: Clinical Biochemistry
Kristel Klaassen, Biljana Stankovic, Nikola Kotur, Maja Djordjevic, Branka Zukic, Gordana Nikcevic, Milena Ugrin, Vesna Spasovski, Sanja Srzentic, Sonja Pavlovic, Maja Stojiljkovic
Phenylketonuria (PKU) is a metabolic disease caused by mutations in the phenylalanine hydroxylase (PAH) gene. Although the PAH genotype remains the main determinant of PKU phenotype severity, genotype-phenotype inconsistencies have been reported. In this study, we focused on unanalysed sequences in non-coding PAH gene regions to assess their possible influence on the PKU phenotype. We transiently transfected HepG2 cells with various chloramphenicol acetyl transferase (CAT) reporter constructs which included PAH gene non-coding regions...
July 22, 2016: Journal of Applied Genetics
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