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Phenylketonuria (PKU) is an autosomal recessive genetic disorder characterized by a deficiency in the enzyme phenylalanine hydroxylase (PAH). This enzyme is necessary to metabolize the amino acid phenylalanine to the amino acid tyrosine. When PAH is deficient, phenylalanine accumulates and is conver...
Services and providers for Phenylketonuria in the U.S. ... The primary NIH organization for research on Phenylketonuria is the National Institute of Child Health and Human Development
What is phenylketonuria? ... Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood.
Phenylketonuria is an inherited disorder in which signs and symptoms vary from mild to severe. ... Phenylketonuria Index
Phenylketonuria (PKU) is a rare, inherited metabolic disease that results in mental retardation and other neurological problems when treatment is not started within the first few weeks of life.
The Official Parent's Sourcebook on PHENYLKETONURIA (Classical Phenylketonuria; ... A comprehensive manual for anyone interested in self-directed research on phenylketonuria.
Phenylketonuria (PKU) is a hereditary disease that, if left untreated, can cause mental retardation and seizures.
General Discussion Phenylketonuria (PKU) is an inborn error of metabolism that is detectable during the first days of life with appropriate blood testing (e.g., during routine neonatal screening).
Welcome to PKU.com, your PKU Web portal. PKU.com has taken on the challenge of creating a comprehensive online resource for the PKU (Phenylketonuria) community. We believe that education, support, and ...
The National PKU News web site provides news and information about phenylketonuria, a rare, inherited metabolic disease. Web site sections include: About PKU, PKU Support Information, Diet-Related ...
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