Children and adolescents with phenylketonuria display fluctuations in their blood phenylalanine levels
Acta Paediatrica,Volume 0, Issue ja, -Not available-.
Phenylketonuria (PKU) is an inherited metabolic disorder characterized by reduced activity of phenylalanine hydroxylase resulting in elevated blood phenylalanine (Phe) concentration. Despite some obvious ocula...
(Immanuel Kant Baltic Federal University) A person affected by this disease has to follow a low-protein diet all his life. Otherwise, phenylalanine will accumulate in the body and can lead to severe damage to the central nervous system.
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): Giovanna Caliman Camatta, Viviane de Cássia Kanufre, Michelle Rosa Andrade Alves, Rosângelis Del Lama Soares, Rocksane de Carvalho Norton, Marcos José Burle de Aguiar, Ana Lúcia Pimenta Starling
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): Melissa Sailer, Gabriela Elizondo, Julie Martin, Cary O. Harding, Melanie B. Gillingham
Conditions: Phenylketonurias; Hyperphenylalaninaemia; Tetrahydrobiopterin Deficiency Intervention: Dietary Supplement: Phenylalanine-free protein substitute in tablet form (XPhe minis) Sponsors: metaX Institut fuer Diatetik GmbH; Birmingham Children’s Hospital Not yet recruiting
rei Phenylalanine is an amino acid found in breast milk and in many foods, being an essential nutrient. This amino acid is very important for the human body because it is transformed into tyrosine and, subsequently, into catecholamine neurotransmitters. However, there are individuals who were born with a genetic disorder called phenylketonuria. The accumulation of phenylalanine and of some metabolites in the body is dangerous and may cause convulsions, brain damage and mental retardation. Determining the concentration of phenylalanine in different biologic fluids is very important because it can provide information abo...
Authors: Moro CA, Hanna-Rose W Abstract Genetic model systems allow researchers to probe and decipher aspects of human disease, and animal models of disease are frequently specifically engineered and have been identified serendipitously as well. Animal models are useful for probing the etiology and pathophysiology of disease and are critical for effective discovery and development of novel therapeutics for rare diseases. Here we review the impact of animal model organism research in three examples of congenital metabolic disorders to highlight distinct advantages of model system research. First, we discuss phenylke...
Conditions: Phenylketonuria; PAH Deficiency Intervention: Genetic: HMI-102 Sponsor: Homology Medicines, Inc Enrolling by invitation