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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Publication date: Available online 20 June 2018 Source:Molecular Genetics and Metabolism Author(s): Roeland A.F. Evers, Annemiek M.J. van Wegberg, Esther van Dam, Maaike C. de Vries, Mirian C.H. Janssen, Francjan J. van Spronsen
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research
Abstract The etiology of altered blood fatty acid (FA) profile in phenylketonuria (PKU) is understood only partially. We aimed to determine whether FAs deficiency is dependent on the diet or metabolic disturbances. The study comprised 40 PKU patients (20 female, 20 male; aged 11 to 35 years; 12 children and 28 adults) and 40 healthy subjects (HS; 20 female, 20 male, aged 18 to 33 years). We assessed the profile of FAs (gas chromatography/mass spectrometry) and analyzed the 72-hour dietary recalls. The amount of C14:0, C16:0 and C16:1n-7, C18:1n-9 did not differ between the analyzed groups. The percentage of C18:0 ...
Source: Acta Biochim Pol - Category: Biochemistry Authors: Tags: Acta Biochim Pol Source Type: research
Conclusion Low protein products availability was successful in improving outcomes for selected amino acid metabolic disorders. However, due to compliance issues and impracticality of the diet, the results were not significant in all enrolled patients.
Source: International Journal of Pediatrics and Adolescent Medicine - Category: Pediatrics Source Type: research
In conclusion, our data demonstrated impaired bioenergetics in cerebral cortex, striatum and hippocampus of HPA rats.
Source: Neurochemistry International - Category: Neuroscience 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
Publication date: Available online 9 June 2018 Source:Molecular Genetics and Metabolism Author(s): Harvey L. Levy, Christineh N. Sarkissian, Raymond C. Stevens, Charles R. Scriver Phenylketonuria (PKU) is a genetic inborn error in metabolism that impacts many people globally, with profound individual and societal consequences when left untreated. The journey of phenylalanine ammonia lyase (PAL) from plant enzyme to enzyme substitution therapy for PKU is a fascinating story that illustrates the importance of collaboration between basic scientists and industry in the drug development process. The story begins with the curio...
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research
A 17-month-old girl with a history of phenylketonuria (PKU) and chronic kidney disease (CKD) secondary to unilateral renal agenesis presented with failure to thrive, diarrhea, and an extensive skin rash. Her parents reported increased irritability, decreased oral intake, and a gradually worsening rash over the last 14 days, with watery diarrhea present for 3 days. The patient was on a special amino-acid-restricted diet formula since birth for PKU and CKD. On examination, a diffuse erythematous confluent rash was present in the perioral region and the inguinal and perianal areas (as shown in Figs.
Source: Pediatrics and Neonatology - Category: Perinatology & Neonatology Authors: Tags: Images Source Type: research
Abstract Incorrect protein folding has been related to a number of genetic diseases. In these pathologies, loss and gain of function mutations can cause protein instability, giving rise to alterations in their catalytic properties or in their subcellular location. The literature includes reports of a number of diseases, called conformational diseases, which are produced by mutations that affect folding. Therefore, many pathologies could benefit from treatment with certain drugs such as proteostasis regulators or pharmacologic chaperones. This work describes the potential use of pharmacologic chaperones in several ...
Source: Revista de Neurologia - Category: Neurology Authors: Tags: Rev Neurol Source Type: research
AbstractAmino acids are involved in various metabolic pathways and some of them also act as neurotransmitters. Since biosynthesis ofl-glutamate and γ-aminobutyric acid (GABA) requires 2-oxoglutarate while 3-phosphoglycerate is the precursor ofl-glycine andd-serine, evolutionary selection of these amino acid neurotransmitters might have been driven by their capacity to provide important information about the glycolytic pathway and Krebs cycle. Synthesis and recycling of amino acid neurotransmitters as well as composition and function of their receptors are often compromised in inherited metabolic diseases. For instanc...
Source: Journal of Inherited Metabolic Disease - Category: Internal Medicine Source Type: research
Biotechs have developed enzyme replacements and genetically modified probiotics to treat patients with the rare metabolic disorder.
Source: The Scientist - Category: Science Tags: News Analysis Source Type: news
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