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Phenylketonuria

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https://www.readbyqxmd.com/read/28080075/cognitive-outcomes-in-early-treated-adults-with-phenylketonuria-pku-a-comprehensive-picture-across-domains
#1
Liana Palermo, Tarekegn Geberhiwot, Anita MacDonald, Ellie Limback, S Kate Hall, Cristina Romani
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. Moreover, it is important to establish outcomes in early treated adults with PKU (AwPKU) who have better metabolic control than groups previously reported in the literature...
January 12, 2017: Neuropsychology
https://www.readbyqxmd.com/read/28071012/phenylketonuria-is-not-a-risk-factor-for-changes-of-inflammation-status-as-assessed-by-interleukin-6-and-interleukin-8-concentrations
#2
Renata Mozrzymas, Monika Duś-Żuchowska, Łukasz Kałużny, Ewa Wenska-Chyży, Jarosław Walkowiak
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...
April 2016: Acta Scientiarum Polonorum. Technologia Alimentaria
https://www.readbyqxmd.com/read/28053173/the-indicator-amino-acid-oxidation-method-with-the-use-of-l-1-13c-leucine-suggests-a-higher-than-currently-recommended-protein-requirement-in-children-with-phenylketonuria
#3
Abrar Turki, Keiko Ueda, Barbara Cheng, Alette Giezen, Ramona Salvarinova, Sylvia Stockler-Ipsiroglu, Rajavel Elango
BACKGROUND: Phenylketonuria is characterized by mutations in the Phe hydroxylase gene that leads to the accumulation of Phe in plasma and the brain. The standard of care for phenylketonuria is nutritional management with dietary restriction of Phe and the provision of sufficient protein and energy for growth and health maintenance. The protein requirement in children with phenylketonuria is empirically determined based upon phenylketonuria nutritional guidelines that are adjusted individually in response to biochemical markers and growth...
January 4, 2017: Journal of Nutrition
https://www.readbyqxmd.com/read/28027971/host-conditioning-and-rejection-monitoring-in-hepatocyte-transplantation-in-humans
#4
Kyle A Soltys, Kentaro Setoyama, Edgar N Tafaleng, Alejandro Soto Gutiérrez, Jason Fong, Ken Fukumitsu, Taichiro Nishikawa, Masaki Nagaya, Rachel Sada, Kimberly Haberman, Roberto Gramignoli, Kenneth Dorko, Veysel Tahan, Alexandra Dreyzin, Kevin Baskin, John J Crowley, Mubina A Quader, Melvin Deutsch, Chethan Ashokkumar, Benjamin L Shneider, Robert H Squires, Sarangarajan Ranganathan, Miguel Reyes-Mugica, Steven F Dobrowolski, George Mazariegos, Rajavel Elango, Donna B Stolz, Stephen C Strom, Gerard Vockley, Jayanta Roy-Chowdhury, Marilia Cascalho, Chandan Guha, Rakesh Sindhi, Jeffrey L Platt, Ira J Fox
BACKGROUND: Hepatocyte transplantation partially corrects genetic disorders and has been associated anecdotally with reversal of acute liver failure. Monitoring for graft function and rejection has been difficult, and has contributed to limited graft survival. METHODS: Preparative hepatic irradiation was examined in non-human primates as a strategy to improve engraftment of donor hepatocytes, and was then applied in human subjects. T-cell immune monitoring was also examined in human subjects to assess adequacy of immunosuppression...
December 24, 2016: Journal of Hepatology
https://www.readbyqxmd.com/read/28027068/is-propofol-safe-in-patients-with-phenylketonuria
#5
Vivek Rayadurg, Akshay Uttarwar, Rohini Surve
No abstract text is available yet for this article.
December 23, 2016: Journal of Neurosurgical Anesthesiology
https://www.readbyqxmd.com/read/28010791/50-years-ago-in-the-journal-of-pediatrics-conference-on-treatment-of-phenylketonuria
#6
Diane B Paul, Lainie Friedman Ross
No abstract text is available yet for this article.
January 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/27971731/cost-effectiveness-analysis-of-restricted-protein-diet-in-patients-with-phenylketonuria-in-the-czech-republic
#7
T Mlcoch, M Sevec, K Lamblova, M Mazalova, T Dolezal
No abstract text is available yet for this article.
November 2016: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/27957302/challenges-of-implementation-of-the-national-phenylketonuria-screening-program-in-iran-a-qualitative-study
#8
Alireza Heidari, Mohammad Arab, Koorosh Etemad, Behzad Damari, Mohammad Javad Kabir
INTRODUCTION: Newborn screening (NBS) is a public health measure aimed at identification of early cases, management of afflicted infants, and making efforts to reduce the morbidity and mortality among newborns. All countries may face challenges in implementation of screening programs. The present study aimed to determine the challenges of implementation of the National Phenylketonuria (PKU) Screening Program in Iran. METHODS: In this qualitative study, 38 health policymakers, managers, and PKU experts in Iran were purposively selected as the respondents in 2015...
October 2016: Electronic Physician
https://www.readbyqxmd.com/read/27956861/biochemical-evaluation-of-phenylalanine-ammonia-lyase-from-endemic-plant-cyathobasis-fruticulosa-bunge-aellen-for-the-dietary-treatment-of-phenylketonuria
#9
Seda Şirin, Selcen Babaoğlu Aydaş, Belma Aslım
Enzyme substitution therapy with the phenylalanine ammonia lyase (PAL) is a new approach to the treatment of patients with phenylketonuria (PKU). This enzyme is responsible for the conversion of phenylalanine to trans-cinnamic acid. We assessed the PAL enzyme of the endemic plant Cyathobasis fruticulosa (Bunge) Aellen. for its possible role in the dietary treatment of PKU. The enzyme was found to have a high activity of (64.9±0.1) U/mg, with the optimum pH, temperature and buffer (Tris-HCl and l-phenylalanine) concentration levels of pH=8...
September 2016: Food Technology and Biotechnology
https://www.readbyqxmd.com/read/27922243/late-diagnosed-phenylketonuria-in-an-eight-year-old-boy-with-dyslexia-and-attention-deficit-hyperactivity-disorder
#10
Yılmaz Yıldız, Ali Dursun, Ayşegül Tokatlı, Turgay Coşkun, Hatice Serap Sivri
Phenylketonuria, previously a common cause of severe intellectual disability, is a metabolic disorder now promptly diagnosed and effectively treated thanks to newborn screening programs. Here, we report a male patient presenting with dyslexia and attention-deficit hyperactivity disorder, who was diagnosed with mild phenylketonuria at eight years of age. Earlier recognition and treatment before the establishment of irreversible brain damage would have resulted in better neurobehavioural outcomes. Classical phenylketonuria and milder phenotypes of phenylalanine hydroxylase deficiency need to be considered in the differential diagnosis of all cognitive and behavioural problems of unknown cause...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27905536/post-translational-incorporation-of-l-phenylalanine-into-the-c-terminus-of-%C3%AE-tubulin-as-a-possible-cause-of-neuronal-dysfunction
#11
Yanina Ditamo, Yanela M Dentesano, Silvia A Purro, Carlos A Arce, C Gastón Bisig
α-Tubulin C-terminus undergoes post-translational, cyclic tyrosination/detyrosination, and L-Phenylalanine (Phe) can be incorporated in place of tyrosine. Using cultured mouse brain-derived cells and an antibody specific to Phe-tubulin, we showed that: (i) Phe incorporation into tubulin is reversible; (ii) such incorporation is not due to de novo synthesis; (iii) the proportion of modified tubulin is significant; (iv) Phe incorporation reduces cell proliferation without affecting cell viability; (v) the rate of neurite retraction declines as level of C-terminal Phe incorporation increases; (vi) this inhibitory effect of Phe on neurite retraction is blocked by the co-presence of tyrosine; (vii) microtubule dynamics is reduced when Phe-tubulin level in cells is high as a result of exogenous Phe addition and returns to normal values when Phe is removed; moreover, microtubule dynamics is also reduced when Phe-tubulin is expressed (plasmid transfection)...
December 1, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27898272/partial-hydatidiform-mole-in-a-phenylketonuria-patient-treated-with-sapropterin-dihydrochloride
#12
Yilmaz Yildiz, Ali Dursun, Aysegul Tokatli, Turgay Coskun, Serap Sivri
Strict control of hyperphenylalaninemia is necessary in pregnant women with phenylketonuria (PKU) in order to prevent phenylalanine embryopathy in the fetus, characterized by intrauterine growth restriction, dysmorphic facies, congenital heart disease, microcephaly and intellectual disability, collectively known as maternal PKU syndrome. Sapropterin dihydrochloride (SD), an alternative or adjunct to dietary therapy in patients with tetrahydrobiopterin (BH4)-responsive PKU, has recently been used in several cases to treat PKU during pregnancy with satisfactory results...
November 29, 2016: Gynecological Endocrinology
https://www.readbyqxmd.com/read/27897433/affinity-chromatography-matrices-for-depletion-and-purification-of-casein-glycomacropeptide-from-bovine-whey
#13
María F Baieli, Nicolás Urtasun, María J Martinez, Daniela B Hirsch, Ana M R Pilosof, María V Miranda, Osvaldo Cascone, Federico J Wolman
Casein glycomacropeptide (CMP) is a 64- amino acid peptide found in cheese whey, which is released after κ-casein specific cleavage by chymosin. CMP lacks aromatic amino acids, a characteristic that makes it usable as a nutritional supplement for people with phenylketonuria. CMP consists of two nonglycosylated isoforms (aCMP A and aCMP B) and its different glycosylated forms (gCMP A and gCMP B). The most predominant carbohydrate of gCMP is N-acetylneuraminic acid (sialic acid). Here, we developed a CMP purification process based on the affinity of sialic acid for wheat germ agglutinin (WGA)...
November 7, 2016: Biotechnology Progress
https://www.readbyqxmd.com/read/27878409/analysis-of-the-functional-muscle-bone-unit-of-the-forearm-in-patients-with-phenylketonuria-by-peripheral-quantitative-computed-tomography
#14
Daniela Choukair, Carolin Kneppo, Reinhard Feneberg, Eckhard Schönau, Martin Lindner, Stefan Kölker, Georg F Hoffmann, Burkhard Tönshoff
Bone disease in patients with phenylketonuria (PKU) is incompletely characterized. We therefore analyzed, in a cross-sectional study radius macroscopic bone architecture and forearm muscle size by peripheral quantitative computed tomography (pQCT) and muscle strength by hand dynamometry in a large cohort (n = 56) of adolescent and adult patients with PKU aged 26.0 ± 8.9 (range, 11.8-41.5) years. Data were compared with a reference population (n = 700) from the DONALD study using identical methodology...
November 22, 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27869385/-phenotypic-and-molecular-characterization-of-a-colombian-family-with-phenylketonuria
#15
Nancy Gélvez, Johana Acosta, Greizy López, Derly Castro, Juan Carlos Prieto, Martha Bermúdez, Marta L Tamayo
Phenylketonuria is a metabolic disorder characterized by severe neurological involvement and behavioral disorder, whose early diagnosis enables an effective treatment to avoid disease sequelae, thus changing the prognosis. Objective: To characterize a family with phenylketonuria in Colombia at clinical, biochemical and molecular levels. Materials and methods: The population consisted of seven individuals of a consanguineous family with four children with suggestive symptoms of phenylketonuria. After signing an informed consent, blood and urine samples were taken for colorimetric tests and high performance liquid and thin layer chromatographies...
September 1, 2016: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/27835797/designing-medical-foods-for-inherited-metabolic-disorders-why-intact-protein-is-superior-to-amino-acids
#16
REVIEW
Denise Marie Ney, Mark Raymond Etzel
Phenylketonuria and tyrosinemia are inherited metabolic disorders characterized by high blood levels of phenylalanine (Phe) or tyrosine (Tyr), due to mutations in genes affecting Phe and Tyr metabolism, respectively. The primary management is a lifelong diet restricted in protein from natural foods in combination with medical foods comprised mixtures of synthetic amino acids. Compliance is often poor after childhood leading to neuropsychological sequela. Glycomacropeptide, an intact 64 amino acid glycophosphopeptide isolated from cheese whey, provides a new paradigm for the management of phenylketonuria and tyrosinemia because glycomacropeptide contains no Phe and Tyr in its pure form, and is also a prebiotic...
November 8, 2016: Current Opinion in Biotechnology
https://www.readbyqxmd.com/read/27832415/household-financial-burden-of-phenylketonuria-and-its-impact-on-treatment-in-china-a-cross-sectional-study
#17
Lin Wang, Hui Zou, Fang Ye, Kundi Wang, Xiaowen Li, Zhihua Chen, Jie Chen, Bingjuan Han, Weimin Yu, Chun He, Ming Shen
BACKGROUND: Phenylketonuria (PKU) is a rare inborn disease, which, untreated, leading to severe neurobehavioral dysfunction. Considering its complexity, the management of PKU may bring a formidable economic burden to parents and caregivers. It is still unknown what the out-of-pocket expenses are for a patient with PKU in China. This paper explores the household financial burden of classical PKU and its impact on Chinese families in a quantitative manner for the first time. METHODS: A non-interventional and observational study was conducted at the China-Japan Friendship Hospital, one of the national centers for inherited metabolic disorders in China...
November 10, 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27830119/the-first-mongolian-cases-of-phenylketonuria-in-selective-screening-of-inborn-errors-of-metabolism
#18
Jamiyan Purevsuren, Baasandai Bolormaa, Chogdon Narantsetseg, Renchindorj Batsolongo, Ochirbat Enkhchimeg, Munkhuu Bayalag, Yuki Hasegawa, Haruo Shintaku, SeijiYamaguchi
BACKGROUND: Inborn errors of metabolism (IEM) are rare genetic disorders in which a single gene defect causes a clinically significant block in a metabolic pathway. Clinical problems arise due to either accumulation of substrates that are toxic or interfere with normal function, or deficiency of the products that are used to synthesize essential compounds. There is no report of screening results or confirmed cases of IEM in Mongolia. Only pilot study of newborn screening for congenital hypothyroidism was implemented in Mongolia, where the incidence of congenital hypothyroidism is calculated to be 1:3057 in Mongolia...
December 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27805419/systematic-review-and-meta-analysis-of-neuropsychiatric-symptoms-and-executive-functioning-in-adults-with-phenylketonuria
#19
Deborah A Bilder, J Kay Noel, Erin R Baker, William Irish, Yinpu Chen, Markus J Merilainen, Suyash Prasad, Barbara J Winslow
This systematic review and meta-analysis (MA) investigates the impact of elevated blood phenylalanine (Phe) on neuropsychiatric symptoms in adults with phenylketonuria (PKU). The meta-analysis of PKU is challenging because high-quality evidence is lacking due to the limited number of affected individuals and few placebo-controlled, double-blind studies of adults with high and low blood Phe. Neuropsychiatric symptoms associated with PKU exceed general population estimates for inattention, hyperactivity, depression, and anxiety...
May 2016: Developmental Neuropsychology
https://www.readbyqxmd.com/read/27786189/crispr-rna-guided-foki-nucleases-repair-a-pah-variant-in-a-phenylketonuria-model
#20
Yi Pan, Nan Shen, Sabine Jung-Klawitter, Christian Betzen, Georg F Hoffmann, Jörg D Hoheisel, Nenad Blau
The CRISPR/Cas9 system is a recently developed genome editing technique. In this study, we used a modified CRISPR system, which employs the fusion of inactive Cas9 (dCas9) and the FokI endonuclease (FokI-dCas9) to correct the most common variant (allele frequency 21.4%) in the phenylalanine hydroxylase (PAH) gene - c.1222C>T (p.Arg408Trp) - as an approach toward curing phenylketonuria (PKU). PKU is the most common inherited diseases in amino acid metabolism. It leads to severe neurological and neuropsychological symptoms if untreated or late diagnosed...
October 27, 2016: Scientific Reports
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