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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Hyperprolinemia type 2


Other Names for this Disease

  • 1 alpha pyrroline-5-carboxylate dehydrogenase deficiency
  • Hyperprolinemia type 2
  • Type 2 hyperprolinemia
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Treatment

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How might hyperprolinemia type 2 be treated?

There is no specific treatment for hyperprolinemia type 2, even for those individuals who experience seizures. In general, if people with hyperprolinemia type 2 have symptoms, they are usually mild and do not require treatment. If seizures are present during childhood, they tend to disappear in adulthood. Attempts to reduce the amount of proline in an affected person's diet have resulted in only modest control of proline levels in the blood and have not reduced symptoms.[1]
Last updated: 11/1/2013

References
  1. Phang JM, Hu CA, Valle D. Disorders of proline and hydroxyproline metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill; 2001; 2:1821-1838.


Clinical Trials & Research for this Disease

  • Orphanet lists clinical trials, research studies, and patient registries enrolling people with this condition. Click on Orphanet to view the list.
  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. 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 "Terms Search" box. Then click "Submit Query".
Other Names for this Disease
  • 1 alpha pyrroline-5-carboxylate dehydrogenase deficiency
  • Hyperprolinemia type 2
  • Type 2 hyperprolinemia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.