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Phenylketonuria |
Classical Phenylketonuria; Deficiency Disease, Phenylalanine Hydroxylase; Folling Disease; Phenylalanine Hydroxylase Deficiency Disease |
Phenylketonuria [PKU] is a human genetic disorder (though it is possible to exist in mice), in which the body lacks phenylalanine hydroxylase, the enzyme necessary to metabolize phenylalanine to tyrosine. Left untreated, the disorder can cause brain damage and progressive mental retardation as a result of the accumulation of phenylalanine and its breakdown products. The incidence of occurrence of PKU is about 1 in 15,000 births, but the incidence varies widely in different human populations ...
Wikipedia - [full article]
Resources
- Aspartame (National Institute of Neurological Diseases and Stroke)
- Aspartame (National Institute of Neurological Disorders and Stroke)
- Babysitter's Guide to PKU (University of Washington PKU Clinic) - Links to PDF File
- Disorders Screened in State NBS Programs (Save Babies Through Screening)
- Genetics Home Reference: Hyperphenylalaninemia (Genetics Home Reference)
- Genetics Home Reference: Phenylketonuria (Genetics Home Reference)
- Genetics Home Reference: Tetrahydrobiopterin deficiency (Genetics Home Reference)
- Introduction to Drug Products Containing Phenylalanine (National PKU News)
- Is Aspartame Safe for My Child? (Nemours Foundation)
- Look-Alike Foods: A Solution or a Pandora's Box? (University of Washington PKU Clinic) - Links to PDF File
- March of Dimes (March of Dimes Birth Defects Foundation)
- National Institute of Child Health and Human Development
- National PKU News
- Newborn Screening Tests (March of Dimes Birth Defects Foundation)
- NIH Consensus Panel Recommends Comprehensive Approach to Life Long Care for PKU (National Institute of Child Health and Human Development)
- Phenylketonuria (Medline Plus)
- Phenylketonuria (National Institutes of Health)
- Phenylketonuria (MayoClinic)
- Phenylketonuria (PKU): Screening and Management (Office of Medical Applications of Research)
- PKU (March of Dimes Birth Defects Foundation)
- Save Babies Through Screening Foundation (Save Babies Through Screening)
- US Clinic Directory Search (Children's Health Care System, Seattle)
- What Is Phenylketonuria (PKU)? (Dolan DNA Learning Center)
- What is the Diet for PKU? (University of Washington PKU Clinic)
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