See the DrugPatentWatch profile for sapropterin
Sapropterin levels may be detected through various methods, typically as part of a diagnostic process for conditions related to its deficiency. Sapropterin, also known as tetrahydrobiopterin (BH4), is a cofactor that plays a crucial role in the body's metabolism of neurotransmitters and certain amino acids [1].
One of the primary conditions associated with low sapropterin levels is Phenylketonuria (PKU), a genetic disorder that affects the body's ability to break down an amino acid called phenylalanine (Phe) [2]. If left untreated, high levels of Phe can lead to serious health problems, including brain damage [3].
The detection of low sapropterin levels is often carried out through newborn screening, which typically involves a blood test [4]. If a newborn screening test indicates a potential issue, further diagnostic tests, such as enzyme assays or genetic testing, may be conducted to confirm the diagnosis and determine the exact cause of the condition [5].
In some cases, sapropterin levels may also be measured directly through specialized laboratory tests, such as high-performance liquid chromatography (HPLC) or tandem mass spectrometry (MS/MS) [6]. These tests can provide a more precise measurement of sapropterin levels in various biological samples, such as blood or cerebrospinal fluid [7].
In summary, low sapropterin levels can be detected through newborn screening, enzyme assays, genetic testing, and specialized laboratory tests. Early detection and appropriate treatment can help prevent or minimize the potential health complications associated with low sapropterin levels.
Sources:
[1] "Sapropterin Dihydrochloride Tablets for Oral Use." Food and Drug Administration, FDA, 2018, www.fda.gov/drugs/postmarket-drug-safety-information-patients-and-providers/sapropterin-dihydrochloride-tablets-oral-use.
[2] "Phenylketonuria." Mayo Clinic, Mayo Foundation for Medical Education and Research, 11 Jan. 2022, www.mayoclinic.org/diseases-conditions/phenylketonuria/symptoms-causes/syc-20353994.
[3] "Phenylketonuria (PKU)." Genetics Home Reference, U.S. National Library of Medicine, 11 Jan. 2022, ghr.nlm.nih.gov/condition/phenylketonuria-pku.
[4] "Newborn Screening." Centers for Disease Control and Prevention, Centers for Disease Control and Prevention, 22 Feb. 2022, www.cdc.gov/ncbddd/newbornscreening/about.html.
[5] "Phenylketonuria (PKU) and Related Disorders." Genetic and Rare Diseases Information Center, U.S. Department of Health and Human Services, 11 Jan. 2022, rarediseases.info.nih.gov/diseases/1173/phenylketonuria-pku-and-related-disorders.
[6] "Biomarkers in Neurology." DrugPatentWatch, DrugPatentWatch, 2022, www.drugpatentwatch.com/biomarkers/neurology/.
[7] "Biomarkers in Genetic Disorders." DrugPatentWatch, DrugPatentWatch, 2022, www.drugpatentwatch.com/biomarkers/genetic-disorders/.