Cystathionine beta synthase

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

Function
[[File:Methionine-metabolism.jpg|thumb|Methionine metabolic pathways Key

SAM: S-adenosylmethionine (SAM-e)

SAH: S-adenosylhomocysteine

THF: tetrahydrofolate

MeCbl: methylcobalamin

1. Cystathionine beta-synthase (CBS) 2. methionine adenosyltransferase I/III 3. methionine adenosyltransferase II 4. glycine N-methyltransferase 5. numerous methyltransferases 6. S-adenosylhomocysteine hydrolase 7. methionine synthase 8. betaine-homocysteine methyltransferase 9. Serine hydroxymethyltransferase 10. methylenetetrahydrofolate reductase 11. cystathionine gamma-lyase ]]

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

 * 2017, Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency (Full text)

Learn more

 * - CBS Upregulation, Myth or Reality, Mark London (not peer reviewed)
 * []