Introduction to Homocystinuria

Let us find out more about homocystinuria! 

To start off, we will briefly go through content related it.

Homocystinuria is a hereditary metabolic disorder and it affects a specific amino acid called methionine. Methionine is an essential amino acid that contains sulfur. Through methionine metabolism, methionine is converted to homocysteine, cystathionine, and cysteine with the enzyme cystathionine synthetase.

                                                    (Cystathionine synthase)

             Methionine à Homocysteine              à             Cystathionine à Cysteine à Sulphate

This disorder is caused primarily when there is a deficiency in the enzyme cystathionine synthetase which leads to the accumulation of methionine and homocysteine in the blood as it affected the metabolism.

Structure of human cystathionine beta-synthase