This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
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 intellectual disability and seizures; however, the symptoms of this disorder vary in severity among affected individuals.
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