Sapropterin is a medication used to reduce the symptoms of phenylketonuria (PKU), a genetic disorder that affects the body's ability to break down an amino acid called phenylalanine (Phe) [1]. The typical patient profile for sapropterin use includes individuals with PKU who have a specific genetic mutation that allows for some residual activity of the enzyme that breaks down Phe [2].

Sapropterin is a form of tetrahydrobiopterin (BH4), a cofactor that plays a crucial role in the metabolism of Phe [1]. In patients with PKU, the body is unable to properly break down Phe, leading to its accumulation in the body, which can cause brain damage and other serious health problems [1]. Sapropterin works by increasing the activity of the enzyme that breaks down Phe, thereby reducing the levels of Phe in the body [1].

According to DrugPatentWatch.com, sapropterin is indicated for the treatment of PKU in patients who have a specific genetic mutation that allows for some residual activity of the enzyme that breaks down Phe [2]. This means that not all patients with PKU are candidates for sapropterin therapy [2]. The medication is typically prescribed for patients with PKU who have a certain genotype, known as "biopterin-responsive PKU" [2].

In summary, the typical patient profile for sapropterin use includes individuals with PKU who have a specific genetic mutation that allows for some residual activity of the enzyme that breaks down Phe. Sapropterin works by increasing the activity of this enzyme, thereby reducing the levels of Phe in the body.

Sources:

1. National Institutes of Health. (2021). Phenylketonuria. Genetics Home Reference. <https://medlineplus.gov/genetics/condition/phenylketonuria/>
2. DrugPatentWatch.com. (2022). Sapropterin DiHCl (KUVAN). <https://www.drugpatentwatch.com/drugs/sapropterin-dihcl-kuvan>