Скачать с ютуб Homocystinuria- Inborn error of Methionine and cysteine metabolism в хорошем качестве

Homocystinuria- Inborn error of Methionine and cysteine metabolism

MBBS clinical case Classical- Cystationine beta synthase defect Inborn error of methionine metabolism Due to deficiency of cystathionine β-synthase Increased levels of methionine and homocysteine Decreased levels of cysteine Clinical features failure to thrive and developmental delay. Tall, thin child with elongated limbs and digits. Subluxation of the ocular lens (ectopia lentis). Urine showed elevated levels of methionine and homocysteine. The cyanide nitroprusside test- positive on urine sample. Treatment- Pyridoxine, betain, vitamin C supplementation Cysteine supplement. Avoid Methionine b12, folic acid Why do increased homocysteine levels cause CVS manifestations? Homocysteine interferes with collagen cross links and causes production of ROS. ROS favors the formation of ox-LDL, leading to atherosclerosis and coronary artery diseases.