Homocystinuria, also known as Cystathionine beta synthase deficiency which occurs 1 in 200000 to 335000 people world wide,It is an inherited disorder of the metabolism of the amino acid methionine, often involving cystathionine beta synthase.This form of homocystinuria is characterized by dislocation of the lens in the eye, an increased risk of abnormal blood clots, and skeletal abnormalities. It is an inherited autosomal recessive trait, which means a child needs to inherit the defective gene from both parents to be affected.
Subscribe in a reader Homocystinuria is caused by mutations in CBS MTHFR MTR,and MTRR genes The CBS gene provides instructions for producing cystathionine beta-synthase. This enzyme is responsible for one step in a chemical pathway that processes the amino acid methionine. Other amino acids, including homocysteine, are also products of this pathway. Mutations in the CBS gene disrupt the function of cystathionine beta-synthase, preventing homocysteine from being used properly. As a result, this amino acid and other potentially toxic substances build up in the blood, and some of the excess homocysteine is excreted in urine.
No comments:
Write comments