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Phenylketonuria

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https://www.readbyqxmd.com/read/28546969/modification-of-infant-hypothyroidism-and-phenylketonuria-screening-program-using-electronic-tools
#1
Behjat Taheri, Asefeh Haddadpoor, Mahmood Mirkhalafzadeh, Fariba Mazroei, Pezhman Aghdak, Mehran Nasri, Gholamreza Bahrami
BACKGROUND: Congenital hypothyroidism and phenylketonuria (PKU) are the most common cause for preventable mental retardation in infants worldwide. Timely diagnosis and treatment of these disorders can have lasting effects on the mental development of newborns. However, there are several problems at different stages of screening programs that along with imposing heavy costs can reduce the precision of the screening, increasing the chance of undiagnosed cases which in turn can have damaging consequences for the society...
2017: Journal of Education and Health Promotion
https://www.readbyqxmd.com/read/28546877/amino-acid-medical-foods-provide-a-high-dietary-acid-load-and-increase-urinary-excretion-of-renal-net-acid-calcium-and-magnesium-compared-with-glycomacropeptide-medical-foods-in-phenylketonuria
#2
Bridget M Stroup, Emily A Sawin, Sangita G Murali, Neil Binkley, Karen E Hansen, Denise M Ney
Background. Skeletal fragility is a complication of phenylketonuria (PKU). A diet containing amino acids compared with glycomacropeptide reduces bone size and strength in mice. Objective. We tested the hypothesis that amino acid medical foods (AA-MF) provide a high dietary acid load, subsequently increasing urinary excretion of renal net acid, calcium, and magnesium, compared to glycomacropeptide medical foods (GMP-MF). Design. In a crossover design, 8 participants with PKU (16-35 y) provided food records and 24-hr urine samples after consuming a low-Phe diet in combination with AA-MF and GMP-MF for 1-3 wks...
2017: Journal of Nutrition and Metabolism
https://www.readbyqxmd.com/read/28540433/altered-tetrahydrobiopterin-metabolism-in-patients-with-phenylalanine-hydroxylase-deficiency
#3
Francesca Nardecchia, Flavia Chiarotti, Claudia Carducci, Silvia Santagata, Giulia Valentini, Antonio Angeloni, Nenad Blau, Vincenzo Leuzzi
The tetrahydrobiopterin (BH4) cofactor is essential for the activity of various enzymes, including phenylalanine (Phe) hydroxylase. In phenylketonuria (PKU) patients, who are chronically exposed to high Phe levels, high urinary excretion of BH4 metabolites neopterin and biopterin is observed. The aim of this longitudinal study was to investigate consistence and variability of the urinary excretion of pterins (neopterin and biopterin) in PKU patients in relation to age and concomitant blood Phe and tyrosine levels...
May 24, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28540274/identification-of-a-novel-mutation-in-the-pah-gene-in-an-iranian-phenylketonuria-family-a-case-report
#4
Masoumeh Razipour, Daniz Kooshavar, Elaheh Alavinejad, Seyede Zahra Sajedi, Neda Mohajer, Aria Setoodeh, Saeed Talebi, Mohammad Keramatipour
Phenylketonuria (PKU) is an inborn error of amino acid metabolism with an autosomal recessive inheritance caused in most cases by mutations in the phenylalanine hydroxylase (PAH) gene. PKU has wide allelic heterogeneity. Here we report a novel heterozygous substitution (c.1223G>T (p.Arg408Leu)) in the PAH gene in an Iranian PKU family. The patient was 19-yr-old female with diagnosis of moderate PKU referred to Department of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran for genetic counseling/analysis in April 2015...
April 2017: Iranian Journal of Public Health
https://www.readbyqxmd.com/read/28534121/organic-anion-transporters-oat1-and-oat3-are-crucial-biopterin-transporters-involved-in-bodily-distribution-of-tetrahydrobiopterin-and-exclusion-of-its-excess
#5
Akiko Ohashi, Kaori Mamada, Tomonori Harada, Masako Naito, Tomihisa Takahashi, Shin Aizawa, Hiroyuki Hasegawa
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. An increase in the BH2/BH4 ratio leads to NOS dysfunction. Previous studies revealed that BH4 supplementation caused a rapid urinary loss of BH4 accompanied by an increase in the blood BH2/BH4 ratio and an involvement of probenecid-sensitive but unknown transporters was strongly suggested in these processes...
May 22, 2017: Molecular and Cellular Biochemistry
https://www.readbyqxmd.com/read/28520731/genetically-engineered-probiotic-for-the-treatment-of-phenylketonuria-pku-assessment-of-a-novel-treatment-in-vitro-and-in-the-pahenu2-mouse-model-of-pku
#6
Katherine E Durrer, Michael S Allen, Ione Hunt von Herbing
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). Functional expression of AvPAL was determined in vitro, and subsequently tested in vivo in homozygous PAHenu2 (PKU model) mice...
2017: PloS One
https://www.readbyqxmd.com/read/28506393/partial-rescue-of-neuropathology-in-the-murine-model-of-pku-following-administration-of-recombinant-phenylalanine-ammonia-lyase-pegvaliase
#7
Marc Goldfinger, William L Zeile, Carley R Corado, Charles A O'Neill, Laurie S Tsuruda, Philip J Laipis, Jonathan D Cooper
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...
April 29, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28505561/class-enzyme-based-motors-for-on-the-fly-enantiomer-analysis-of-amino-acids
#8
Laura García-Carmona, María Moreno-Guzmán, María Cristina González, Alberto Escarpa
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...
May 6, 2017: Biosensors & Bioelectronics
https://www.readbyqxmd.com/read/28504493/neuropsychological-assessment-among-children-and-adolescents-with-phenylketonuria-and-hyperphenylalaninemia-and-its-relationship-with-plasma-phenylalanine-levels
#9
María B González García, Pablo Conde-Guzon, Carlos Alcalde Martín, María J Conde-Guzon, Roberto Velasco Zúñiga
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...
June 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28491816/treatment-adherence-during-childhood-in-individuals-with-phenylketonuria-early-signs-of-treatment-discontinuation
#10
María Ignacia García, Gabriela Araya, Soledad Coo, Susan E Waisbren, Alicia de la Parra
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. Analyze how treatment adherence evolves through infancy, childhood, and early adolescence in individuals with PKU. 2. Identify early signs of treatment discontinuation. METHODOLOGY: This longitudinal, retrospective study included 75 children diagnosed through newborn screening, ages 7 to 13 years...
June 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28491049/sleep-disturbances-in-phenylketonuria-an-explorative-study-in-men-and-mice
#11
Vibeke M Bruinenberg, Marijke C M Gordijn, Anita MacDonald, Francjan J van Spronsen, Eddy A Van der Zee
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. In this explorative study, we investigated possible sleep problems in adult treated PKU patients and untreated PKU mice. In the PKU patients, sleep characteristics were compared to healthy first degree relatives by assessment of sleep disturbances, sleep-wake patterns, and sleepiness with the help of four questionnaires: Holland sleep disorder questionnaire, Pittsburgh sleep quality index, Epworth sleepiness scale, and Munich Chronotype Questionnaire...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28489557/reduced-bone-mineral-density-in-chinese-children-with-phenylketonuria
#12
Kundi Wang, Ming Shen, Honglei Li, Xiaowen Li, Chun He
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. Our aim was to evaluate bone mineral density (BMD) in children with PKU. METHODS: To investigate the BMD of children with PKU, 41 children with PKU and 64 healthy controls were recruited (all 3-4 years of age). Body weight and height, BMD, Phe blood levels, thyroid function, calcium, phosphorus, iron metabolism markers, and vitamin D3 were measured...
May 9, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28472877/psychological-and-psychosocial-implications-for-parenting-a-child-with-phenylketonuria-a-systematic-review
#13
Lidia Borghi, Elisabetta Salvatici, Enrica Riva, Marcello Giovannini, Elena A Vegni
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...
May 4, 2017: Minerva Pediatrica
https://www.readbyqxmd.com/read/28468253/unbalance-between-excitation-and-inhibition-in-phenylketonuria-a-genetic-metabolic-disease-associated-with-autism
#14
Antonella De Jaco, Dalila Mango, Federica De Angelis, Flores Lietta Favaloro, Diego Andolina, Robert Nisticò, Elena Fiori, Marco Colamartino, Tiziana Pascucci
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...
April 29, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28465033/newborn-screening-by-matrix-assisted-laser-desorption-ionization-mass-spectrometry-based-on-parylene-matrix-chip
#15
Jo-Il Kim, Joo-Yoon Noh, Mira Kim, Jong-Min Park, Hyun-Woo Song, Min-Jung Kang, Jae-Chul Pyun
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%...
April 29, 2017: Analytical Biochemistry
https://www.readbyqxmd.com/read/28460935/health-promoting-ingredients-from-four-selected-azorean-macroalgae
#16
Lisete Paiva, Elisabete Lima, Ana Isabel Neto, Massimo Marcone, José Baptista
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...
November 2016: Food Research International
https://www.readbyqxmd.com/read/28446738/work-activity-and-phenylalanine-levels-in-a-population-of-young-adults-with-classic-pku
#17
Michele Augusto Riva, Fabiana Madotto, Massimo Turato, Elisabetta Salvatici, Silvia Indovina, Marcello Giovannini, Enrica Riva, Giancarlo Cesana
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...
April 21, 2017: La Medicina del Lavoro
https://www.readbyqxmd.com/read/28402322/nutritional-status-in-patients-with-phenylketonuria-using-glycomacropeptide-as-their-major-protein-source
#18
A Pinto, M F Almeida, P C Ramos, S Rocha, A Guimas, R Ribeiro, E Martins, A Bandeira, A MacDonald, J C Rocha
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...
April 12, 2017: European Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28400091/metabolomic-changes-demonstrate-reduced-bioavailability-of-tyrosine-and-altered-metabolism-of-tryptophan-via-the-kynurenine-pathway-with-ingestion-of-medical-foods-in-phenylketonuria
#19
Denise M Ney, Sangita G Murali, Bridget M Stroup, Nivedita Nair, Emily A Sawin, Fran Rohr, Harvey L Levy
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...
April 6, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28389235/dna-methylated-alleles-of-the-phenylalanine-hydroxylase-promoter-remodeled-at-elevated-phenylalanine-levels-in-newborns-with-hyperphenylalaninemia
#20
Chike Bellarmine Item, Somayeh Farhadi, Andrea Schanzer, Susanne Greber-Platzer
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...
April 4, 2017: Clinical Biochemistry
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