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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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
In the treatment of phenylketonuria (PKU), there was disparity between UK dietitians regarding interpretation of how different foods should be allocated in a low phenylalanine diet (allowed without measurement...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
Publication date: Available online 26 December 2018Source: Molecular Genetics and MetabolismAuthor(s): R. Feldmann, J. Osterloh, S. Onon, J. Fromm, F. Rutsch, J. WeglageAbstractBackgroundThe long-term prognosis of early treated phenylketonuria (PKU) is still under discussion. Aim of this controlled long-term study was to assess the neurological and neuropsychological outcome in adult patients with early-treated PKU.MethodsWe investigated 35 patients with early-treated classical PKU aged 29 to 51 years (mean age 41 years) and 18 healthy controls matched for age and socioeconomic status. Patients and controls were assess...
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research
Condition:   Phenylketonuria Interventions:   Dietary Supplement: Phenylalanine;   Drug: Placebo Sponsors:   University Hospital Inselspital, Berne;   University of Zurich Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
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