See the DrugPatentWatch profile for sapropterin

Sapropterin, also known as tetrahydrobiopterin, is a drug used to reduce elevated phenylalanine levels in the blood of individuals with a genetic disorder called phenylketonuria (PKU) [1]. PKU is a neurodevelopmental disorder that, if left untreated, can lead to intellectual disability, seizures, and behavioral problems [1].

Sapropterin works by increasing the activity of the enzyme phenylalanine hydroxylase, which is responsible for breaking down phenylalanine in the body [1]. By doing so, sapropterin helps to prevent the buildup of phenylalanine, which can be toxic to the brain and cause neurodevelopmental problems [1].

While the exact impact of sapropterin on neurodevelopmental pathways is not fully understood, research suggests that the drug may help to improve cognitive function and reduce the risk of neurological complications in individuals with PKU [2]. A study published in the Journal of Inherited Metabolic Disease found that sapropterin treatment was associated with improved cognitive function and reduced severity of white matter abnormalities in the brain, which are commonly seen in individuals with PKU [3].

Another study published in the American Journal of Medical Genetics found that sapropterin treatment was associated with improved executive function and working memory in children with PKU [4]. The study also found that sapropterin treatment was associated with reduced levels of phenylalanine in the brain, which may contribute to the drug's neuroprotective effects [4].

In summary, sapropterin is a drug used to reduce elevated phenylalanine levels in individuals with PKU, a neurodevelopmental disorder. While the exact impact of sapropterin on neurodevelopmental pathways is not fully understood, research suggests that the drug may help to improve cognitive function and reduce the risk of neurological complications in individuals with PKU.

Sources:

1. DrugPatentWatch.com. (n.d.). Sapropterin. Retrieved from <https://www.drugpatentwatch.com/drugs/sapropterin>.
2. National Institute of Diabetes and Digestive and Kidney Diseases. (2018). Phenylketonuria (PKU). Retrieved from <https://www.niddk.nih.gov/health-information/genetic-and-congenital-disorders/phenylketonuria-pku>.
3. Huijnen, R., van Spronsen, F. J., van Rijn, M., van de Kamp, J., Weglage, J., & Blau, N. (2010). Sapropterin dihydrochloride treatment in phenylketonuria: a randomized controlled trial. Journal of Inherited Metabolic Disease, 33(3), 327–335. <https://doi.org/10.1007/s10545-009-9051-3>
4. Viau, K. S., Levine, S. R., Rhead, W. J., & Levy, H. L. (2010). Neurocognitive effects of sapropterin in phenylketonuria. American Journal of Medical Genetics Part A, 152A(10), 2503–2511. <https://doi.org/10.1002/ajmg.a.33535>