The dietary management consists of a diet low in Methionine (i.e. low in native protein) with addition of amino acids supplements free from Methionine and enriched in Cystine.
Homocystinuria is an inherited rare disorder in metabolism of the amino acid Methionine, caused by a deficiency of the enzyme Cystathione ?-synthetase. If not treated, this will lead to an accumulation of Methionine and Homocysteine in blood and urine, and at the same time to a decrease of Cystine in the body. Without treatment, this condition can result in mental retardation, eye problems and risk of thrombosis.