See the DrugPatentWatch profile for sapropterin

Sapropterin, also known as tetrahydrobiopterin, is a naturally occurring substance in the body that plays a crucial role in biochemical reactions involving amino acids. Specifically, it acts as a cofactor for enzymes that are involved in the synthesis of neurotransmitters and other biologically important compounds.

However, sapropterin is perhaps most well-known for its role as a biomarker in the diagnosis and treatment of a genetic disorder called phenylketonuria (PKU). PKU is a metabolic disorder that affects the body's ability to break down an amino acid called phenylalanine, leading to its accumulation in the body and potentially causing brain damage.

Sapropterin is used as a biomarker in PKU because it is a necessary cofactor for the enzyme that breaks down phenylalanine. By measuring the levels of sapropterin in the body, doctors can determine the severity of PKU and monitor the effectiveness of treatment.

In addition to its use as a biomarker, sapropterin is also available as a prescription drug for the treatment of PKU. The drug, which is marketed under the brand name Kuvan, is a synthetic form of tetrahydrobiopterin that can help reduce phenylalanine levels in people with PKU.

It is worth noting that, while sapropterin is an important tool in the diagnosis and treatment of PKU, it is not a cure for the disorder. People with PKU must still follow a strict diet that limits their intake of phenylalanine, even if they are taking sapropterin.

In summary, sapropterin plays a primary role in biomarker control for PKU, a genetic disorder that affects the body's ability to break down phenylalanine. It is used to determine the severity of PKU and monitor the effectiveness of treatment. Additionally, sapropterin is available as a prescription drug for the treatment of PKU, although it is not a cure for the disorder.

Sources:

1. National Institutes of Health. (2021). Tetrahydrobiopterin. Genetics Home Reference. <https://medlineplus.gov/genetics/gene/bh4/>
2. National Institutes of Health. (2021). Phenylketonuria. Genetics Home Reference. <https://medlineplus.gov/genetics/condition/phenylketonuria/>
3. DrugPatentWatch. (2021). Kuvan (sapropterin dihydrochloride) Drug Profile. <https://www.drugpatentwatch.com/drugs/kuvan>