Phenylketonuria
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Phenylketonuria (PKU) is an inherited condition that is caused by toxic levels of phenylalanine in the body. If left untreated, this buildup of phenylalanine can cause severe intellectual disabilities. Because PKU can be detected by a simple blood test and is treatable, newborn screening is available for this disorder.[1]
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- More Detailed Information (Found: 20 Resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates
- General
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The Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) provides information related to the health of children, adults, and families. Click on the link to view information on this topic.
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The Genetic Alliance is an international coalition comprised of more than 600 advocacy, research and health care organizations representing millions of individuals with genetic conditions. Click on the link to view information on this topic.
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Genetics Home Reference (GHR) contains a condition summary on Phenylketonuria. Click on the link to go to GHR and review this summary.
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MedlinePlus, a Web site designed by the National Library of Medicine Web site to help you research your health questions, provides more information about this topic. Click on the link to view this information.
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MedlinePlus a service of the National Library of Medicine (NLM) at the National Institutes of Health (NIH) provides an encyclopedia article about phenylketonuria (PKU). To view the article, click on the MedlinePlus link.
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The National Center for Biotechnology Information (NCBI) was established in 1988 as a national resource for molecular biology information. Click on the link to view information on this topic.
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The National Human Genome Research Institute's (NHGRI) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on this topic.
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The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
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The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Phenylketonuria. Click on the link to go to OMIM and review these resources.
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Orphanet is a database dedicated to information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
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PubMed is a searchable database of medical literature and lists journal articles that discuss Phenylketonuria. Click on the link to view a sample search on this topic.
- Management Guidelines
- Newborn Screening
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The U.S. National Newborn Screening Status Report lists the status of newborn screening state by state and is available on the National Newborn Screening and Genetic Resource Center (NNSGRC) Web site. The NNSGRC provides information and resources in the area of newborn screening and genetics to benefit health professionals, the public health community, consumers and government officials. Click on the link above to view the report.
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An ACTion (ACT) sheet for this condition has been developed by experts in collaboration with the American College of Medical Genetics, an organization providing education, resources and a voice for the medical genetics profession. ACT sheets are general guidelines that describe the short-term actions a health professional should follow in talking with the family and deciding the appropriate steps in the follow-up of an infant who has screened positive on a newborn screening test. Click on the link above to view the ACT sheet.
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An Algorithm for this condition has been developed by experts in collaboration with the American College of Medical Genetics, an organization providing education, resources and a voice for the medical genetics profession. Algorithms are general guidelines for healthcare providers outlining steps involved in determining the diagnosis of an infant who has screened positive on a newborn screening test. Click on the link above to view the Algorithm.
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When an infant is newly diagnosed with PKU, the Children's PKU Network will send the parents an express pack of information to help the family get adjusted. This packet is free of charge. Click on the link to read more about how to obtain a packet.
- Support Groups (Found: 7 Resources)
Groups providing a wide range of services, supportive resources, and information
- Umbrella Organizations
- Disease-Specific Organizations
- Live Chat
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The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
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RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
- Clinical Trials & Research (Found: 2 Resources)
Resources where you may find research studies and clinical trials
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ClinicalTrials.gov lists trials that are studying or have studied Phenylketonuria. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
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To help you stay up-to-date on ongoing PKU research visit the PKU News Web site. Click on the link to view research information.
- Services (Found: 1 Resource)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories
- Testing
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GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
- NLM Gateway
A tool to search across multiple resources offered on the National Library of Medicine's Website
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The NLM Gateway allows users to search across multiple resources offered on the National Library of Medicine's Web site. Some of these resources may be duplicated in the list of links above. Click on the link to go to the NLM Gateway, and search by condition name.