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Phenylketonuria

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https://www.readbyqxmd.com/read/28645531/new-protein-structures-provide-an-updated-understanding-of-phenylketonuria
#1
REVIEW
Eileen K Jaffe
Phenylketonuria (PKU) and less severe hyperphenylalaninemia (HPA) constitute the most common inborn error of amino acid metabolism, and is most often caused by defects in phenylalanine hydroxylase (PAH) function resulting in accumulation of Phe to neurotoxic levels. Despite the success of dietary intervention in preventing permanent neurological damage, individuals living with PKU clamor for additional non-dietary therapies. The bulk of disease-associated mutations are PAH missense variants, which occur throughout the entire 452 amino acid human PAH protein...
June 15, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28632427/speed-of-processing-and-executive-functions-in-adults-with-phenylketonuria-quick-in-finding-the-word-but-not-the-ladybird
#2
Cristina Romani, Anita MacDonald, Sara De Felice, Liana Palermo
A reduction in processing speed is widely reported in phenylketonuria (PKU), possibly due to white matter pathology. We investigated possible deficits and their relationships with executive functions in a sample of 37 early-treated adults with PKU (AwPKUs). AwPKUs were not characterized by a generalized speed deficit, but instead their performance could be explained by two more specific impairments: (a) a deficit in the allocation of visuo-spatial attention that reduced speed in visual search tasks, in some reading conditions and visuo-motor coordination tasks; and (b) a more conservative decision mechanism that slowed down returning an answer across domains...
June 20, 2017: Cognitive Neuropsychology
https://www.readbyqxmd.com/read/28624210/low-dose-gene-therapy-for-murine-pku-using-episomal-naked-dna-vectors-expressing-pah-from-its-endogenous-liver-promoter
#3
Hiu Man Grisch-Chan, Andrea Schlegel, Tanja Scherer, Gabriella Allegri, Raphael Heidelberger, Panagiota Tsikrika, Marco Schmeer, Martin Schleef, Cary O Harding, Johannes Häberle, Beat Thöny
Limited duration of transgene expression, insertional mutagenesis, and size limitations for transgene cassettes pose challenges and risk factors for many gene therapy vectors. Here, we report on physiological expression of liver phenylalanine hydroxylase (PAH) by delivery of naked DNA/minicircle (MC)-based vectors for correction of homozygous enu2 mice, a model of human phenylketonuria (PKU). Because MC vectors lack a defined size limit, we constructed a MC vector expressing a codon-optimized murine Pah cDNA that includes a truncated intron and is under the transcriptional control of a 3...
June 16, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28604955/-characteristics-of-phenylalanine-hydroxylase-gene-mutations-among-patients-with-phenylketonuria-from-linyi-region-of-shandong-province
#4
Huafeng Li, Yongli Li, Li Zhang
OBJECTIVE: To explore the characteristics of (PAH) gene mutations among patients with phenylketonuria (PKU) from Linyi area of Shandong Province. METHODS: For 51 children affected with PKU and their parents, the 13 exons and their flanking intronic sequences of the PAH gene were directly sequenced with Sanger method. RESULTS: PAH gene mutations were detected in all of the 102 alleles of the patients, which included 31 types of mutations. Common mutations included R243Q (17/102, 16...
June 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28593914/improved-metabolic-control-in-tetrahydrobiopterin-bh4-responsive-phenylketonuria-with-sapropterin-administered-in-two-divided-doses-vs-a-single-daily-dose
#5
Deniz Kör, Berna Şeker Yılmaz, Fatma Derya Bulut, Serdar Ceylaner, Neslihan Önenli Mungan
BACKGROUND: Phenylketonuria (PKU) often requires a lifelong phenylalanine (Phe)-restricted diet. Introduction of 6R-tetrahydrobiopterin (BH4) has made a huge difference in the diets of patients with PKU. BH4 is the co-factor of the enzyme phenylalanine hydroxylase (PAH) and improves PAH activity and, thus, Phe tolerance in the diet. A limited number of published studies suggest a pharmacodynamic profile of BH4 more suitable to be administered in divided daily doses. METHODS: After a 72-h BH4 loading test, sapropterin was initiated in 50 responsive patients...
June 5, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28566968/autism-spectrum-disorder-and-phenylketonuria-dyzygotic-twins-with-double-syndrome
#6
Esra Demirci
No abstract text is available yet for this article.
March 2017: Noro Psikiyatri Arsivi
https://www.readbyqxmd.com/read/28565794/novel-two-step-derivation-method-for-the-synchronous-analysis-of-inherited-metabolic-disorders-using-urine
#7
Xiao-Qi Sheng, Yi-Chao Wang
The aim of the present study was to conduct preliminary clinical screening and monitoring using a novel two-step derivatization process of urine in five categories of inherited metabolic disease (IMD). Urine samples (100 µl, containing 2.5 mmol/l creatinine) were taken from patients with IMDs. The collected urine was then treated using a two-step derivatization method (with oximation and silylation at room temperature), where urea and protein were removed. In the first step of the derivatization, α-ketoacids and α-aldehyde acids were prepared by oximation using novel oximation reagents...
May 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28560701/nano-calorimetry-based-point-of-care-biosensor-for-metabolic-disease-management
#8
Evan Kazura, Brad R Lubbers, Elliott Dawson, John A Phillips, Franz Baudenbacher
Point of care (POC) diagnostics represents one of the fastest growing health care technology segments. Developments in microfabrication have led to the development of highly-sensitive nanocalorimeters ideal for directly measuring heat generated in POC biosensors. Here we present a novel nano-calorimeter-based biosensor design with differential sensing to eliminate common mode noise and capillary microfluidic channels for sample delivery to the thermoelectric sensor. The calorimeter has a resolution of 1.4 ± 0...
September 2017: Biomedical Microdevices
https://www.readbyqxmd.com/read/28552082/cerebral-dopamine-deficiency-plasma-monoamine-alterations-and-neurocognitive-deficits-in-adults-with-phenylketonuria
#9
E Boot, C E M Hollak, S C J Huijbregts, R Jahja, D van Vliet, A J Nederveen, D H Nieman, A M Bosch, L J Bour, A J Bakermans, N G G M Abeling, A S Bassett, T A M J van Amelsvoort, F J van Spronsen, J Booij
BACKGROUND: Phenylketonuria (PKU), a genetic metabolic disorder that is characterized by the inability to convert phenylalanine to tyrosine, leads to severe intellectual disability and other cerebral complications if left untreated. Dietary treatment, initiated soon after birth, prevents most brain-related complications. A leading hypothesis postulates that a shortage of brain monoamines may be associated with neurocognitive deficits that are observable even in early-treated PKU. However, there is a paucity of evidence as yet for this hypothesis...
May 29, 2017: Psychological Medicine
https://www.readbyqxmd.com/read/28546969/modification-of-infant-hypothyroidism-and-phenylketonuria-screening-program-using-electronic-tools
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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