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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As Cambridge biotech Synlogic begins human trials, pre-clinical data released this week shows that a probiotic pill containing a beneficial strain of E.Coli could reduce the root problem of a hereditary disease that causes intellectual disabilities by 40 percent. Synlogic Inc (Nasdaq: SYBX) is developing probiotic medications to treat an array of metabolic disorders, including the hereditary disease phenylketonuria (PKU). The disease causes harmful levels of amino acids to build up, leading to permanent…
Source: bizjournals.com Health Care:Biotechnology headlines - Category: Biotechnology Authors: Source Type: news
We report the outcome of 12 patients with inherited neurotransmitter disorders of monoamine, tetrahydrobiopterin and γ amino butyric acid metabolisms from a single Inherited Neurotransmitter Disorder Clinic including tyrosine hydroxylase (n=2), aromatic l-amino acid decarboxylase (n=1), 6-pyruvoyltetrahydropterin synthase, dihydropteridine reductase and succinic semialdehyde dehydrogenase deficiencies. Six patients (with 6-pyruvoyltetrahydropterin synthase, dihydropteridine reductase and tyrosine hydroxylase deficiencies) had normal neurodevelopmental outcome on treatment. Tetrahydrobiopterin loading test in newborns...
Source: The Canadian Journal of Neurological Sciences - Category: Neurology Authors: Tags: Can J Neurol Sci Source Type: research
Publication date: September 2018Source: Molecular Genetics and Metabolism Reports, Volume 16Author(s): A. Pinto, S. Adams, K. Ahring, H. Allen, M.F. Almeida, D. Garcia-Arenas, N. Arslan, M. Assoun, Y. Atik Altınok, D. Barrio-Carreras, A. Belanger Quintana, S.M. Bernabei, C. Bontemps, F. Boyle, G. Bruni, M. Bueno-Delgado, G. Caine, R. Carvalho, A. Chrobot, K. ChyżAbstractBackgroundIn infants with phenylketonuria (PKU), dietary management is based on lowering and titrating phenylalanine (Phe) intake from breast milk or standard infant formula in combination with a Phe-free infant formula in order to maintain blood Phe leve...
Source: Molecular Genetics and Metabolism Reports - Category: Genetics & Stem Cells Source Type: research
Discussion “Literacy is traditionally meant as the ability to read and write. The modern term’s meaning has been expanded to include the ability to use language, numbers, images, computers, and other basic means to understand, communicate, gain useful knowledge, solve mathematical problems and use the dominant symbol systems of a culture.” The earliest written communication was in 3500-3000 BCE, with the earliest alphabet being from 1200-750 BCE. Although the percentage of the world’s adult literacy rate is increasing each decade by ~5%, “…from 55.7 per cent in 1950 to 86.2 per cent in...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news
Publication date: August 2018Source: Journal of the Academy of Nutrition and Dietetics, Volume 118, Issue 8Author(s): Penelope D. Manta-Vogli, Kleopatra H. Schulpis
Source: Journal of the Academy of Nutrition and Dietetics - Category: Nutrition Source Type: research
Acta Paediatrica,Volume 0, Issue ja, -Not available-.
Source: Acta Paediatrica - Category: Pediatrics Authors: Source Type: research
Conclusion: This study found a greater frequency of metabolic diseases in offspring of consanguineous parents than in those of non-consanguineous parents in a population with a high rate of consanguinity.Hum Hered 2017 –18;83:71–78
Source: Human Heredity - Category: Genetics & Stem Cells Source Type: research
AbstractBioMarin Pharmaceutical is developing pegvaliase (PALYNZIQ ™) as a treatment for phenylketonuria, a genetic disorder caused by deficiency of phenylalanine hydroxylase which leads to neurotoxic accumulation of phenylalanine. Data from the phase III PRISM clinical trial program indicate treatment with pegvaliase is associated with sustained reductions in bl ood phenylalanine levels and sustained improvements in neurological sequelae in patients with phenylketonuria. Based on these positive results pegvaliase was recently approved in the US for adults with phenylketonuria who have uncontrolled blood phenylalanin...
Source: BioDrugs - Category: Drugs & Pharmacology Source Type: research
Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria, Published online: 12 July 2018; doi:10.1038/s41436-018-0081-xAllelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria
Source: Genetics in Medicine - Category: Genetics & Stem Cells Authors: Source Type: research
Publication date: September 2018Source: Molecular Genetics and Metabolism Reports, Volume 16Author(s): Chiara Cazzorla, Giulia Bensi, Giacomo Biasucci, Vincenzo Leuzzi, Filippo Manti, Antonella Musumeci, Francesco Papadia, Vera Stoppioni, Albina Tummolo, Marcella Vendemiale, Giulia Polo, Alberto BurlinaAbstractDietary treatment is the cornerstone of therapy for phenylketonuria (PKU), but adherence to low- phenylalanine diet progressively decreases after adolescence. We designed a survey to characterize the dietary habits of Italian adult PKU patients and to identify psychological factors influencing disease perception and ...
Source: Molecular Genetics and Metabolism Reports - Category: Genetics & Stem Cells Source Type: research
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