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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When it comes to low-calorie sweeteners, you have a lot of choices. There’s the blue one, the pink one, the yellow one, or the green one. Whichever one you choose, know that scientists have probably studied it extensively. What they’ve found may surprise you. Artificial and other non-caloric sweeteners: The major players The marketers for artificial sweeteners have color-coded their products, but they differ in some important ways beyond their packaging. In the US, the most popular FDA-approved non-sugar sweeteners (NSSs) and their most common packaging color are: aspartame (blue): examples include Nutrasweet ...
Source: Harvard Health Blog - Category: Consumer Health News Authors: Tags: Diet and Weight Loss Health Healthy Eating Source Type: blogs
ConclusionsThe access to economic and social data on phenylketonuria in Spain has been updated. The number of admissions in Spain between 1997 and 2015 and healthcare costs between 1999 and 2015 were calculated. There were 24 admissions as a result of a phenylketonuria diagnosis in 2015 and the mean healthcare cost per patient was €4239.32. This information can help to adapt and improve each healthcare system to take into consideration rare diseases.
Source: Clinical Drug Investigation - Category: Drugs & Pharmacology Source Type: research
remains one of the most common inborn errors of metabolism. In the UK it is detected on the newborn heel-prick screening sample allowing early treatment with a strict low phenylalanine diet supplemented with artificial amino acids and appropriate vitamin and minerals. Although the long-term prognosis is good, there is an increasing body of evidence highlighting subtle problems in neuropsychological function with slower reaction times and poorer executive function than peers. White matter changes clearly seen on brain magnetic resonance imaging may have some relationship to these neuropsychological difficulties but their s...
Source: Paediatrics and Child Health - Category: Pediatrics Authors: Tags: Symposium: inborn errors of metabolism Source Type: research
In phenylketonuria, casein glycomacropeptide (CGMP) requires modification with the addition of some essential and semi essential amino acids to ensure suitability as a protein substitute. The optimal amount an...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
In conclusion, the mutational spectrum underlying PKU in Northwest China was established for the first time. Functional analysis of 20 novelPAH gene variants enriched thePAH gene mutational spectrum. Correlation analysis between variants frequencies in compound heterozygous patients and phenotype severity is helpful for phenotypic prediction.
Source: Metabolic Brain Disease - Category: Neurology Source Type: research
We report the results of a first-in-humans, randomized, double-blind, placebo-controlled, dose-ranging, Phase I clinical trial in 83 healthy volunteers of CNSA-001, a novel formulation of sepiapterin. Single oral doses of 2.5–80 mg/kg CNSA-001 caused dose-related increases in plasma sepiapterin (mean Cmax 0.58–2.92 ng/mL) and BH4 (mean Cmax 57–312 ng/mL). Maximum plasma concentrations were achieved in about 1–2 h (sepiapterin) or about 4 h (BH4) after CNSA-001 oral intake.Increases in plasma BH4 were substantially larger in absolute terms and on a dose-for-dose basis following treatment wi...
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research
In conclusion, along with establishment of a validated LC-MS/MS method for quantitation of AAs and ACs from the DBS cards, the study also demonstrates the presence of predominantly available IEMs in Bangladesh. PMID: 30723736 [PubMed - in process]
Source: Biomed Res - Category: Research Authors: Tags: Biomed Res Int Source Type: research
Condition:   Phenylketonurias Interventions:   Other: Diet;   Drug: Sapropterin Sponsors:   Universidade do Porto;   Centro Hospitalar do Porto;   BioMarin Pharmaceutical Not yet recruiting
Source: - Category: Research Source Type: clinical trials
Abstract The high stereo- and substrate specificities of enzymes have been utilized for micro-determination of amino acids. Here, I review the discovery of l-Phe dehydrogenase and its practical use in the diagnosis of phenylketonuria in more than 5,400,000 neonates over two decades in Japan. Screening and uses of other selective enzymes for micro-determination of amino acids have also been discussed. In addition, novel enzymatic assays with the systematic use of known enzymes, including assays based on a pyrophosphate detection system using pyrophosphate dikinase for a variety of l-amino acids with amino-acyl-tRNA...
Source: Bioscience, Biotechnology, and Biochemistry - Category: Biochemistry Authors: Tags: Biosci Biotechnol Biochem Source Type: research
We report for the first time severe acute pancreatitis in a child treated for phenylketonuria (PKU) discovered on neonatal screening. This 2-year-old boy was first hospitalized for bilious vomiting and moderate back pain. Laboratory values included a lipase level of 1.142 U/L, a phenylalanine level of 10mg/dL, and computed tomography revealed Balthazar grade E pancreatitis. Continuous enteral feeding was started on the 3rd day after admission. We observed clinical and biological improvement. Etiologic investigations for pancreatitis returned negative. Despite the severity of the pancreatitis, we did not observe decompensat...
Source: Archives de Pediatrie - Category: Pediatrics Authors: Tags: Arch Pediatr Source Type: research
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