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Coexistence of phenylketonuria and tyrosinemia type 3: challenges in the dietary management.
J Pediatr Endocrinol Metab
January 2025
Department of Rare Diseases, Institute of Graduate Studies in Health Sciences, Istanbul University, Istanbul, Türkiye.
Objectives: Phenylketonuria (PKU) and tyrosinemia type 3 (HT3) are both rare autosomal recessive disorders of phenylalanine-tyrosine metabolism. PKU is caused by a deficiency in phenylalanine hydroxylase (PAH), leading to elevated phenylalanine (Phe) and reduced tyrosine (Tyr) levels. HT3, the rarest form of tyrosinemia, is due to a deficiency in 4-hydroxyphenylpyruvate dioxygenase (HPD).
View Article and Find Full Text PDFInoculation with sp. enhances carbohydrate and amino acid production, strengthening antioxidant metabolism to mitigate heat stress in wheat cultivars.
Front Plant Sci
December 2024
Botany and Microbiology Department, Faculty of Science, Beni-Suef University, Beni-Suef, Egypt.
Introduction: Heat stress caused by global warming adversely affects wheat yield through declining most nutritional quality attributes in grains, excluding grain protein content.
Methods: This research investigated the biochemical, physiological, and antioxidant responses of wheat plants under heat stress, focusing on the role of plant growth-promoting bacteria ( sp.).
An electrochemical sensor integrated lab-on-a-CD system for phenylketonuria diagnostics.
Lab Chip
January 2025
Hacettepe University, Institute of Science, Nanotechnology and Nanomedicine Division, Ankara, Turkey.
Phenylketonuria (PKU) is characterized by an autosomal recessive mutation in the phenylalanine hydroxylase (PAH) gene. Impaired PAH enzyme activity leads to the accumulation of phenylalanine (Phe) and its metabolites in the bloodstream, which disrupts the central nervous system and causes psychomotor retardation. Early diagnosis of PKU is essential for timely intervention.
View Article and Find Full Text PDFEvaluation of bone mineral density and biochemical markers in pediatric patients with phenylketonuria.
Mol Genet Metab Rep
December 2024
School of Medicine, Urmia University of Medical Sciences, Urmia, West Azerbaijan, Iran.
Objectives: Phenylketonuria is a hereditary condition caused by the deficiency of the enzyme phenylalanine hydroxylase, leading to abnormal phenylalanine metabolism. Managing phenylketonuria involves implementing dietary interventions to control phenylalanine levels and prevent complications. However, these treatments can lead to long-lasting negative effects, including impacts on bone health and abnormal biochemical test findings.
View Article and Find Full Text PDFSerotonin exerts numerous neurological and physiological actions in the brain and in the periphery. It is generated by two different tryptophan hydroxylase enzymes, TPH1 and TPH2, in the periphery and in the brain, respectively, which are members of the aromatic amino acid hydroxylase (AAAH) family together with phenylalanine hydroxylase (PAH), degrading phenylalanine, and tyrosine hydroxylase (TH), generating dopamine. In this study, we show that the co-chaperone DNAJC12 is downregulated in serotonergic neurons in the brain of mice lacking TPH2 and thereby central serotonin.
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