Developmental Defects of Enamel in Phenylketonuria Patients

Source: Journal of Dentistry for Children - Category: Dentistry Authors: Tags: Clinical Article Source Type: research

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In this study, the spectrum of PAH variants in 1083 Chinese PKU patients was analyzed. Then 20 variants (p.L52F, p.R86P, p.L128P, p.L142P, p.D163N, p.C203G, p.E214G, p.F260L, p.M276T, p.L311R, p.P314A, p.L364F, p.Q375H, p.F382I, p.A395S, p.V412D, p.E108*, p.C203*, p.C284* and p.E353*) were expressed in COS-7 cells. The residual activities and protein expression levels were detected by isotope-dilution liquid chromatography-electrospray ionization tandem mass spectrometry (LC-ESI-MS/MS) and Western blotting, respectively. We compared the results of the phenotypic prediction based on APV and PAH activity respectively, and fu...
Source: Gene - Category: Genetics & Stem Cells Authors: Tags: Gene Source Type: research
Publication date: Available online 8 May 2019Source: Clinica Chimica ActaAuthor(s): Andraz Smon, Vanja Cuk, Jernej Brecelj, Simona Murko, Urh Groselj, Mojca Zerjav Tansek, Tadej Battelino, Barbka Repic LampretAbstractObjectivesPrecise quantification of amino acids (AAs) is mandatory for successful diagnosis and monitoring of patients with metabolic diseases. We compared ion-exchange chromatography (IEC) and liquid chromatography with tandem mass spectrometry (LC-MS/MS), the two methods most commonly used in clinical laboratories for the quantification of AAs in physiological samples.Design &methods123 apparently health...
Source: Clinica Chimica Acta - Category: Laboratory Medicine Source Type: research
Abstract OBJECTIVES: Precise quantification of amino acids (AAs) is mandatory for successful diagnosis and monitoring of patients with metabolic diseases. We compared ion-exchange chromatography (IEC) and liquid chromatography with tandem mass spectrometry (LC-MS/MS), the two methods most commonly used in clinical laboratories for the quantification of AAs in physiological samples. DESIGN &METHODS: 123 apparently healthy children were selected for the study. The plasma samples for LC-MS/MS were prepared accordingly to the aTRAQ Kit for Physiological Fluids on Sciex 3200 Qtrap, for IEC according to the pro...
Source: International Journal of Clinical Chemistry - Category: Chemistry Authors: Tags: Clin Chim Acta Source Type: research
Condition:   Phenylketonuria Intervention:   Dietary Supplement: Free amino acids intake Sponsors:   University of British Columbia;   Vitaflo International, Ltd Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
AbstractUntreated phenylketonuria (PKU) in pregnancy causes a severe embryopathy called maternal PKU syndrome. Here, we aimed to assess management issues and pregnancy outcomes in the first published series of PKU pregnancies from the developing world. Data were collected retrospectively in a single center from 71 pregnancies and 45 live births of 32 women with PKU, 11 of whom were diagnosed in adulthood after having an affected child. Microcephaly, intellectual disability, and dysmorphic facies were more prevalent in offspring of untreated than treated pregnancies with classical PKU (100% vs. 0%, 91% vs. 0%, and 73% vs. 23% withp 
Source: European Journal of Pediatrics - Category: Pediatrics Source Type: research
Publication date: Available online 26 April 2019Source: Molecular Genetics and MetabolismAuthor(s): Ania C. Muntau, Darius J. Adams, Amaya Bélanger-Quintana, Tatiana V. Bushueva, Roberto Cerone, Yin-Hsiu Chien, Ana Chiesa, Turgay Co┼čkun, Javier de las Heras, François Feillet, Rachel Katz, Florian Lagler, Flavia Piazzon, Fran Rohr, Francjan J. van Spronsen, Paula Vargas, Gisela Wilcox, Kaustuv BhattacharyaAbstractPhenylketonuria (PKU) is an inherited metabolic disease caused by phenylalanine hydroxylase (PAH) deficiency. As the resulting high blood phenylalanine (Phe) concentration can have detrimental effect...
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research
Source: BMJ News - Category: General Medicine Source Type: research
AbstractLimited published research has evaluated mental health in parents of children with phenylketonuria (PKU) and their coping strategies. We aimed to assess anxiety, depression and coping in parents of Tunisian children treated for PKU. We conducted a cross-sectional study in the reference center for the management of inherited metabolic diseases in Tunisia. We used the Hospital Anxiety and Depression (HAD) scale and the Brief-COPE. Dependent variables were anxiety, depression, HAD Depression (HADD) and Anxiety (HADA) scores, and coping scores. Linear regression and logistic binary regression were used for multivariate...
Source: Journal of Developmental and Physical Disabilities - Category: Disability Source Type: research
Condition:   Adult Phenylketonuria Non Treated Patients Intervention:   Dietary Supplement: Dietary Supplement for PKU patients Sponsors:   University Hospital, Tours;   INSERM 1415-TOURS Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
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