Säilytyssairaudet

Säilytyssairaudet, known in English as storage diseases or metabolic storage diseases, are a group of rare genetic disorders characterized by the abnormal accumulation of complex molecules within the body's cells. These molecules, which can be lipids, carbohydrates, proteins, or mucopolysaccharides, are usually broken down by specific enzymes. When an enzyme is deficient or absent due to a genetic mutation, these substances build up to toxic levels, damaging cells, tissues, and organs.

The specific symptoms and severity of a storage disease vary greatly depending on the type of molecule that accumulates, which enzyme is affected, and the extent of the enzyme deficiency. Common symptoms can include enlarged liver and spleen, developmental delays, neurological problems, skeletal abnormalities, vision or hearing loss, and heart conditions. These diseases are inherited in an autosomal recessive pattern, meaning that an individual must inherit a faulty gene from both parents to be affected.

Diagnosis often involves a combination of clinical examination, biochemical tests to measure enzyme activity or accumulated substances, and genetic testing. There is currently no cure for most storage diseases, and treatment focuses on managing symptoms, slowing disease progression, and improving quality of life. Some treatments, such as enzyme replacement therapy or substrate reduction therapy, are available for certain conditions. Research into gene therapy offers hope for future cures.