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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Journal of Child and Adolescent Psychiatric Nursing, EarlyView.
Source: Journal of Child and Adolescent Psychiatric Nursing - Category: Nursing Authors: Source Type: research
Source: Neuropsychiatric Disease and Treatment - Category: Psychiatry Tags: Neuropsychiatric Disease and Treatment Source Type: research
This study aimed to explore the experiences of parents of children with PKU under the age of two. It is the first study to examine these experiences in this way. Seven parents were interviewed about their experiences, and interpretative phenomenological analysis was used to analyse the data. Three main themes were identified:control,striving for normality andacceptance of PKU as a continuum. Links between the themes and processes underpinning the results were explored with relation to existing literature and theories from a clinical psychology perspective. The role of acceptance of PKU was central to the parent ’s ex...
Source: Journal of Genetic Counseling - Category: Genetics & Stem Cells Source Type: research
AbstractIt is well known that hyperphenylalaninemia caused by phenylketonuria (PKU) negatively influences cognitive performance. Several tests have been used to study these functions. Until now, no universal, optimal tool has been developed for detecting PKU-caused brain dysfunctions. Using computerized neuropsychological tests during daily routine would be helpful for screening subclinical brain deficits in adult PKU patients. In a monocentric, cross-sectional study, adult patients with PKU (n = 46; median age = 29.5 years; female/male ratio = 21/25) were tested with the comp...
Source: Metabolic Brain Disease - Category: Neurology Source Type: research
Treatment of phenylketonuria (PKU) with sapropterin dihydrochloride in responsive patients from an early age can have many advantages for the patient over dietary restriction alone. Accordingly, approval of sa...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Position statement Source Type: research
CONCLUSION: Pegvaliase is a promising new treatment option for adults living with PKU. Further studies are warranted to determine long-term safety and clinical efficacy in subpopulations. PMID: 30247930 [PubMed - as supplied by publisher]
Source: Current Medical Research and Opinion - Category: Research Tags: Curr Med Res Opin Source Type: research
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
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