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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The Obstetrician&Gynaecologist, EarlyView.
Source: The Obstetrician and Gynaecologist - Category: OBGYN Authors: Source Type: research
People with congenital phenylketonuria, a condition in which the amino acid phenylalanine is overproduced, have to undergo regular blood testing. This is important in part because maintaining a proper diet can reduce phenylalanine levels, so gau...
Source: Medgadget - Category: Medical Devices Authors: Tags: Medicine Pathology Pediatrics Source Type: blogs
Publication date: Available online 12 September 2018Source: Molecular Genetics and MetabolismAuthor(s): Barbara K. Burton, Kyle Bradford Jones, Stephen Cederbaum, Fran Rohr, Susan Waisbren, Debra E. Irwin, Gilwan Kim, Joshua Lilienstein, Ignacio Alvarez, Elaina Jurecki, Harvey LevyAbstractBackgroundPhenylalanine hydroxylase (PAH) deficiency, otherwise known as phenylketonuria (PKU), is an inborn error of metabolism that requires treatment to be initiated in the newborn period and continued throughout life. Due to the challenges of treatment adherence and the resulting cumulative effects of high and labile blood phenylalani...
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research
Monitoring metabolites at the point of care could improve the diagnosis and management of numerous diseases. Yet for most metabolites, such assays are not available. We introduce semisynthetic, light-emitting sensor proteins for use in paper-based metabolic assays. The metabolite is oxidized by nicotinamide adenine dinucleotide phosphate, and the sensor changes color in the presence of the reduced cofactor, enabling metabolite quantification with the use of a digital camera. The approach makes any metabolite that can be oxidized by the cofactor a candidate for quantitative point-of-care assays, as shown for phenylalanine, ...
Source: ScienceNOW - Category: Science Authors: Tags: Biochemistry, Medicine, Diseases reports Source Type: news
In this study we used RNA-Seq to investigate an avian model of MPKU and establish differential gene expression (DEG) characteristics of the early developmental stages HH10, 12, and 14. In total, we identified 633 significantly differentially expressed genes across stages HH10, 12, and 14. As expected, functional annotation of significant DEGs identified associations seen in clinical phenotypes of MPKU including CVMs, congenital heart defects, craniofacial anomalies, central nervous system defects, and growth anomalies. Additionally, there was an overrepresentation of genes involved in cardiac muscle contraction, adrenergic...
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research
By manipulating DNA, researchers are trying to create microbes that, once ingested, work to treat a rare genetic condition — a milestone in synthetic biology.
Source: NYT Health - Category: Consumer Health News Authors: Tags: Digestive Tract Microbiology Bacteria Synthetic Biology Genetic Engineering Phenylketonuria (PKU) E Coli (Bacteria) Biotechnology and Bioengineering Massachusetts Institute of Technology Collins, James J Source Type: news
ido Paias R PMID: 30177502 [PubMed - as supplied by publisher]
Source: Anales de Pediatria - Category: Pediatrics Authors: Tags: An Pediatr (Barc) Source Type: research
Even though early dietary management of phenylketonuria (PKU) successfully prevents severe neurological impairments, deficits in cognitive functioning are still observed. These deficits are believed to be the ...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Review Source Type: research
Phenylketonuria (PKU) is often considered as the classical example of a genetic disorder in which severe symptoms can nowadays successfully be prevented by early diagnosis and treatment. In contrast, untreated...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Review Source Type: research
Engineered bacteria are capable of converting phenylalanine and may serve as a potential therapy for phenylketonuria.
Source: Science Translational Medicine - Category: Biomedical Science Authors: Tags: Editors ' Choice Source Type: research
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