Hyperprolinemia type 2
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Hyperprolinemia type 2 results in an excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. Hyperprolinemia type 2 causes proline levels in the blood to be 10 to 15 times higher than normal, and it also causes high levels of a related compound called pyrroline-5-carboxylate. Some people with this condition develop mild mental retardation and seizures; however, the symptoms of this disorder vary in severity among affected individuals.[1]
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- More Information (Found: 5 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 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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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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The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Hyperprolinemia type 2. Click on the link to go to OMIM and review these resources.
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PubMed lists journal articles that discuss Hyperprolinemia type 2. Click on the link to go to PubMed and review citations to these articles.
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Genetics Home Reference (GHR) contains a condition summary on Hyperprolinemia type 2. Click on the link to go to GHR and review this summary.
- Support Groups (Found: 5 Resources)
Groups providing a wide range of services, supportive resources, and information
- Umbrella Organizations
- Disease-Specific Organizations
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Children Living with Inherited Metabolic Diseases (CLIMB)
Climb Building
176 Nantwich Road
Crewe CW2 6BG
United Kingdom
Phone: 0800 652 3181 (toll free)
Email: info.svcs@climb.org.uk
Web site: www.climb.org.uk
- 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.
- Research & Clinical Trials (Found: 2 Resources)
Resources where you may find research studies and clinical trials
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CRISP is a searchable database of federally funded biomedical research projects conducted at universities, hospitals, and other research institutions. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies click on the link and enter the disease name in the enter search terms box and click the and button below the box. Then click Submit Query.
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Orphanet lists clinical trials, research studies, and patient registries enrolling people with this condition. Click on Orphanet to view the list.
- Services (Found: 2 Resources)
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- Testing
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Orphanet lists international laboratories offering diagnostic testing for this condition. Click here and scroll down the page to learn more about the processes of certification, accreditation, and external quality assessment available to these labs. Click on Orphanet to view the list.
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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.
- More Search Tools (Found: 1 Resources)
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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.