Short answer · Medically reviewed summary · Last updated: 2023-07-13
Hyperprolinemia Type I is a rare genetic disorder characterized by elevated levels of the amino acid proline in the blood and urine. It is caused by a deficiency of the enzyme proline dehydrogenase, which is responsible for breaking down proline.
What is the prevalence of Hyperprolinemia Type I?
Prevalence of Hyperprolinemia Type I: how many people are affected worldwide, differences by sex and region, with sources.
Hyperprolinemia Type I is a rare genetic disorder characterized by elevated levels of the amino acid proline in the blood and urine. It is caused by a deficiency of the enzyme proline dehydrogenase, which is responsible for breaking down proline. This condition is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to be affected.
The prevalence of Hyperprolinemia Type I is not well-established due to its rarity and the lack of comprehensive population studies. However, it is estimated to affect approximately 1 in every 100,000 to 200,000 individuals worldwide. The disorder has been reported in various ethnic groups, suggesting that it is not specific to any particular population.
Although Hyperprolinemia Type I is considered a rare condition, it is important to note that the actual number of affected individuals may be higher than reported due to underdiagnosis or misdiagnosis. Genetic testing and screening can help identify individuals with this disorder, allowing for early intervention and management.
