Rassin D K, Longhi R C, Gaull G E
J Pediatr. 1977 Oct;91(4):574-7. doi: 10.1016/s0022-3476(77)80505-2.
Patients with homocystinuria due to cystathionine synthase deficiency do not have free homocystine in the liver when it is present in high concentrations in the plasma and the urine. The liver of these patients is capable of maintaining normal concentrations of cystine at a time when the plasma cystine concentration is severely reduced. There is an increase in the methionine concentration of the liver which is reduced to normal concentrations during pyridoxine therapy.
由于胱硫醚合酶缺乏导致同型胱氨酸尿症的患者，当血浆和尿液中同型胱氨酸浓度很高时，肝脏中却没有游离的同型胱氨酸。在血浆胱氨酸浓度严重降低时，这些患者的肝脏能够维持胱氨酸的正常浓度。肝脏中甲硫氨酸浓度升高，在维生素B6治疗期间降至正常浓度。
