Cystathionine beta synthase

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Cystathionine Beta Synthase or CBS is an enzyme in the methionine catabolic pathway.[1]

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)[1]

ME/CFS[edit | edit source]

Notable studies[edit | edit source]

  • 2018, Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency[1] (Full text)

See also[edit | edit source]

Learn more[edit | edit source]

References[edit | edit source]