Скачать или смотреть 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.