Homocystinuria is an inherited metabolic disorder involving the way the body processes methionine, an amino acid. Amino acids are the building blocks of proteins. There are multiple forms of homocystinuria, which are distinguished by their signs and symptoms and genetic cause.
The signs and symptoms typically develop within the first year of life, although some people with a mild form of the disease may not develop features until later in childhood or adulthood.
Recordati Rare Diseases is supporting the European Registry and Network for homocystinuria and methylation defects. Recordati Rare Diseases has also developed information for patients and families.
With proper drug treatment, homocystinuria progression can be halted or symptoms can be reduced.