From the Research
CBS, or cystathionine beta-synthase deficiency, does not typically show up in standard saliva tests. This rare genetic disorder is primarily diagnosed through blood tests that measure homocysteine and methionine levels, or through genetic testing that identifies mutations in the CBS gene. Saliva can be used to collect DNA for genetic testing, but the actual CBS enzyme activity or metabolites associated with the condition are not directly measured in saliva.
Key Points to Consider
- The provided studies 1, 2, 3, 4, 5 do not directly address the presence of CBS in saliva, but rather discuss the use of saliva in therapeutic drug monitoring and disease biomarkers.
- The most recent and highest quality study 5 focuses on the clinical value of saliva therapeutic drug monitoring of newer antiseizure medications, but does not mention CBS.
- Given the lack of direct evidence, it is recommended to consult with a healthcare provider who can order blood tests and possibly genetic testing to diagnose CBS deficiency.
- Early diagnosis is important because CBS deficiency can lead to serious complications including thromboembolism, skeletal abnormalities, and developmental delays if left untreated.
- Treatment typically involves dietary restrictions, vitamin B6 supplementation, betaine, and other supportive measures depending on the severity of the condition.