Homocystinuria

Homocystinuria is a congenital, autosomal recessive inherited disorder of amino acid metabolism. It can be divided into three types. Most common, however, is type I, in which the activity of cysteine ​​synthase (CBS) is reduced.

As a result, the degradation of homocysteine ​​is disturbed and this dimerizes to homocystine. Homocystine accumulates in the body and causes damage to the CNS, heart, kidneys, blood vessels, bones and eyes. The affected patients are particularly at risk due to thrombosis in the arterial and venous systems.

Homocystinuria often leads to mental retardation. However, early detection followed by rapid and consistent therapy can provide a favorable prognosis.