Living with Phenylketonuria: Lessons from the PKU community
نویسندگان
چکیده
منابع مشابه
Phenylketonuria (PKU) – A Success Story
Phenylketonuria (PKU; OMIN 261600 and 261630) is an autosomal recessive geneticmetabolic disease. It is one of the most common of over 200 known such diseases, at least 30 of which have treatments to ameliorate the adverse effects. PKU is one of the first diseases causing mental and physical disability for which successful treatment has been developed. The cause of PKU is defective function of ...
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Phenylketonuria (PKU) is a rare metabolic disorder characterized by impaired conversion of phenylalanine (Phe) to tyrosine. If left untreated, the resultant accumulation of excess blood Phe can cause physiological, neurological, and intellectual disabilities. The National PKU Alliance (NPKUA) conducted a survey of its membership to assess current health status and interest in new treatments for...
متن کاملPhenylketonuria (Pku): Food Controlled Genetic Disease
Phenylketonuria (PKU) is an autosomal recessive inborn disorder of the metabolism that occurs due to mutations in the gene that codifies enzyme called the phenylalanine hydroxylase (PAH) which is responsible for converting dietary phenylalanine (Phe) into tyrosine (Tyr) in the liver. This results in persistent elevated Phe blood and tissue concentrations, with potential toxic effects, particula...
متن کاملPearl S. Buck and phenylketonuria (PKU).
In 1921, Pearl S. Buck gave birth to a daughter, Carol, who became severely retarded and was eventually institutionalized at the Vineland Training School in New Jersey. To help pay for her daughter's care, Buck wrote The Good Earth in 1931, and then other novels and biographies about her life in China, for which she was awarded the Nobel and Pulitzer Prizes, and honored around the world. Years ...
متن کاملAdjuvant Treatment for Phenylketonuria (PKU) Executive Summary
Etiology Phenylketonuria (PKU) is a metabolic disorder in which an inability to properly metabolize the amino acid phenylalanine (Phe) leads to a buildup of Phe in the blood, causing neurotoxicity and resulting in intellectual disability, delayed speech, seizures, and behavior abnormalities. Individuals with PKU are also susceptible to other adverse outcomes, including impaired executive functi...
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ژورنال
عنوان ژورنال: Molecular Genetics and Metabolism Reports
سال: 2018
ISSN: 2214-4269
DOI: 10.1016/j.ymgmr.2018.10.002