Kertymäsairaudet

Kertymäsairaudet, also known as storage diseases, are a group of genetic disorders characterized by the abnormal accumulation of specific substances within cells. These substances can be lipids, carbohydrates, proteins, or other molecules, and their buildup occurs because the body lacks the necessary enzymes to break them down or transport them properly. This accumulation can occur in various organs and tissues, including the liver, spleen, brain, heart, and joints, leading to progressive cellular damage and dysfunction.

The underlying cause of kertymäsairaudet is typically a mutation in a gene that codes for a specific enzyme. When this enzyme is deficient or non-functional, the substrate it normally metabolizes builds up. The symptoms of these diseases vary widely depending on the specific substance that accumulates and the organs affected. They can manifest in infancy, childhood, or adulthood and may include developmental delays, organ enlargement, neurological problems, skeletal abnormalities, and metabolic disturbances.

Diagnosis of kertymäsairaudet often involves a combination of clinical evaluation, biochemical tests to measure enzyme activity or detect accumulated substances, and genetic testing to identify the specific gene mutation. Treatment strategies are often focused on managing symptoms and slowing disease progression, as a cure is not always available. Enzyme replacement therapy, substrate reduction therapy, and hematopoietic stem cell transplantation are some of the therapeutic approaches used for certain types of storage diseases. Research into new treatments and potential cures is ongoing.