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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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What is hyperprolinemia type 2?

How might hyperprolinemia type 2 be treated?

What is hyperprolinemia type 2?

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]
Last updated: 11/1/2013

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.[2]
Last updated: 11/1/2013

  1. Hyperprolinemia. Genetics Home Reference Website . June 2007; Accessed 11/3/2008.
  2. 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.