Homocystinuria
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Table of contents
Overview
Homocystinuria is an inherited metabolic disorder related to the way the body processes methionine, an amino acid. Amino acids are the building blocks of proteins. There are several forms of homocystinuria, distinguished by their symptoms and genetic cause.
Signs and symptoms usually develop in the first year of life, although some people with a mild form of the disease do not develop features until later in childhood or adulthood.
Recordati Rare Diseases supports the European registration and network for homocystinuria and methylation defects. Recordati Rare Diseases has also developed information for patients and families.
With appropriate drug treatment, the progression of homocystinuria can be stopped or symptoms can be reduced.
