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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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.
Last updated: 11/1/2013
- Finding Treatment Information - A video developed by GARD Information Specialists that explains how you can find information about treatment for a rare disease.
- Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition.
- 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, enter the disease name in the "Text Search" box. Then click "Submit Query".