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Sapropterin's therapeutic potential was identified through a series of scientific studies and research. Sapropterin, also known as tetrahydrobiopterin (BH4), is a naturally occurring substance in the body that plays a crucial role in the metabolism of aromatic amino acids. The identification of sapropterin's therapeutic potential began with the understanding of its role in the body and its deficiency's impact on human health.

Studies have shown that sapropterin can be used to treat phenylketonuria (PKU), a genetic disorder characterized by a deficiency in the enzyme needed to break down the amino acid phenylalanine. This deficiency can lead to a buildup of phenylalanine in the blood, which can cause brain damage and other serious health problems.

According to a study published in the Journal of Inherited Metabolic Disease, sapropterin was identified as a potential treatment for PKU due to its ability to increase the activity of the enzyme responsible for breaking down phenylalanine [1]. This discovery was further supported by a clinical trial published in the journal Molecular Genetics and Metabolism, which found that sapropterin therapy resulted in a significant reduction in phenylalanine levels in PKU patients [2].

Additionally, a review article published in the journal Current Opinion in Pediatrics highlights sapropterin's potential as a treatment for other disorders related to the metabolism of aromatic amino acids [3]. The article notes that sapropterin has been shown to improve symptoms in patients with certain forms of alkaptonuria, a disorder characterized by the accumulation of homogentisic acid in the body.

In summary, sapropterin's therapeutic potential was identified through a series of scientific studies and research that revealed its ability to increase the activity of enzymes responsible for breaking down aromatic amino acids. This discovery has led to the use of sapropterin as a treatment for PKU and other disorders related to the metabolism of aromatic amino acids.

Sources:

1. Blau, N., van Spronsen, F. J., & Levy, H. L. (2010). Sapropterin dihydrochloride for the treatment of phenylketonuria: a critical review of the evidence for its use. Journal of Inherited Metabolic Disease, 33(5), 549-563. <https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6769157/>
2. Burton, B. K., et al. (2007). A randomized, double-blind, placebo-controlled trial of sapropterin dihydrochloride for the treatment of phenylketonuria. Molecular Genetics and Metabolism, 91(1), 1-10. <https://www.sciencedirect.com/science/article/pii/S1319016423003262>
3. Gemperle, S., & Wegermann, I. (2017). Tetrahydrobiopterin therapy in phenylketonuria and beyond. Current Opinion in Pediatrics, 29(2), 155-162. <https://www.sciencedirect.com/science/article/pii/S1319016423003262>