Cystathionine beta synthase
Function[edit | edit source]
CBS deficiency[edit | edit source]
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)
ME/CFS[edit | edit source]
Notable studies[edit | edit source]
- 2017, Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency(Full text)
See also[edit | edit source]
Learn more[edit | edit source]
References[edit | edit source]
- Morris, Andrew A.M.; Kožich, Viktor; Santra, Saikat; Andria, Generoso; Ben-Omran, Tawfeg I. M.; Chakrapani, Anupam B.; Crushell, Ellen; Henderson, Mick J.; Hochuli, Michel (2017). "Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency". Journal of Inherited Metabolic Disease. 40 (1): 49–74. doi:10.1007/s10545-016-9979-0. ISSN 0141-8955. PMC 5203861. PMID 27778219.
enzyme a substance produced by a living organism which acts as a catalyst to bring about a specific biochemical reaction.
β β / Β. Greek letter beta (a symbol used in science), equivalent to "b".