Cystathionine beta synthase

Cystathionine Beta Synthase or CBS is an enzyme in the methionine catabolic pathway.

CBS deficiency
CBS deficiency is rare and physical signs commonly associated with it are:
 * eye lens dislocated (ectopia lentis) and/or severe short-sighted vision
 * being very tall, with long limbs similar to in Marfan's syndrome, osteoporosis and bone deformities (e.g., pectus excavatum or carinatum, genu valgum and scoliosis)
 * intellectual disability or developmental delay, seizures, psychiatric and behavioural problems and extrapyramidal signs
 * Vascular system: blood clots moving to obstruct blood vessels (thromboembolism)

Notable studies

 * 2018, Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency (Full text)

Learn more

 * [http://web.mit.edu/london/www/cbs.html - CBS Upregulation, Myth or Reality, Mark London (not peer reviewed)
 * []