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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
Chike Bellarmine Item, Sharmane Escueta, Andrea Schanzer, Somayeh Farhadi, Thomas Metz, Maximilian Zeyda, Dorothea Möslinger, Susanne Greber-Platzer, Vassiliki Konstantopoulou
OBJECTIVES: Phenylketonuria (PKU) is characterized by a high phenylalanine (phe) in plasma and oxidative stress. However, the monitoring of oxidative stress in newborns with PKU using the activity levels of antioxidant enzymes is not optimal. We investigated the possibility of monitoring an increased reactive oxygen species (ROS) production using DNA methylation changes of an oxidative stress response element in the promoter region of an enzymatic antioxidant gene. DESIGN AND METHODS: Using DNA extracted from blood leukocytes, the cytosine phosphodiester bond guanine positions of an overlapping CCAAT box/metal response element (CGATTGGCTG) of the glutathione peroxidase 3 promoter activated by oxidative stimuli and expressed in plasma were analysed for methylation changes in 20 newborns with hyperphenylalaninemia and 20 healthy controls...
October 12, 2016: Clinical Biochemistry
J Hui, S C Chong, L K Law, L K Lee, S Chang, P Yau, Y P Yuen
No abstract text is available yet for this article.
October 2016: Hong Kong Medical Journal, Xianggang Yi Xue za Zhi
Ana Claudia Marquim F Araújo, Wilma M C Araújo, Ursula M Lanfer Marquez, Rita Akutsu, Eduardo Y Nakano
BACKGROUND: Knowing the phenylalanine (Phe) content of foods is essential for managing the diet of patients with phenylketonuria. Data on the Phe content of foods are scarce and sometimes vary between different Food Composition Tables (FCT). Brazil created its own table of the Phe contents of fruits and vegetables based exclusively on the chemical analysis of protein content, considering that proteins contain 3-4% Phe (TCFA/ANVISA). This study compared the protein and Phe contents of vegetables and fruits provided by the TCFA/ANVISA with those listed in international food composition tables...
October 8, 2016: JIMD 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
Diane B Paul, Lainie Friedman Ross
No abstract text is available yet for this article.
October 2016: Journal of Pediatrics
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
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
Mohammed Almannai, Ronit Marom, V Reid Sutton
PURPOSE OF REVIEW: The purpose of this review is to summarize the development and recent advancements of newborn screening. RECENT FINDINGS: Early initiation of medical care has modified the outcome for many disorders that were previously associated with high morbidity (such as cystic fibrosis, primary immune deficiencies, and inborn errors of metabolism) or with significant neurodevelopmental disabilities (such as phenylketonuria and congenital hypothyroidism)...
August 20, 2016: Current Opinion in Pediatrics
Saeed Talebi, Mona Entezam, Neda Mohajer, Golnaz-Ensieh Kazemi-Sefat, Masoumeh Razipour, Somayeh Ahmadloo, Aria Setoodeh, Mohammad Keramatipour
OBJECTIVE: The phenylalanine hydroxylase (PAH) locus has high linkage disequilibrium. Haplotypes related to this locus may thus be considered sufficiently informative for genetic diagnosis and carrier screening using multi-allelic markers. In this study, we present an efficient method for haplotype analysis of PAH locus using multiplexing dyes. In addition, we explain how to resolve the dye shift challenge in multiplex short tandem repeat (STR) genotyping. MATERIALS AND METHODS: One hundred family trios were included in this descriptive study...
July 2016: Cell Journal
H H Yang, L Qiu, J Q Zhao, N Yang, L F Gong, Y Y Kong
OBJECTIVE: To investigate the epidemiologic characteristics and risk factors for congenital hypothyroidism (CH) in Beijing between the years 1989 and 2014. METHODS: Information on neonatal screening, and diagnoses and treatment of CH from 1989 to 2014 were obtained from the database of the Beijing Neonatal Screening Center. The screening parameter was thyroid-stimulating hormone (thyrotropin; TSH), which was measured by radioimmunoassay (RIA) from 1989 to 1995, enzyme-linked immunosorbent assay (ELISA) from 1996 to 2003, and time-resolved fluorescence immunoassay (DELFIA(®)) from 2004 to 2014...
August 6, 2016: Zhonghua Yu Fang Yi Xue za Zhi [Chinese Journal of Preventive 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
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
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