varastointihäiriön

Varastointihäiriö, known in English as storage disorder, refers to a group of rare genetic diseases. These conditions are characterized by the accumulation of specific substances within cells, tissues, or organs due to enzyme deficiencies or malfunctions. The body's normal metabolic processes are disrupted, leading to the buildup of molecules that cannot be adequately broken down or excreted.

The specific substance that accumulates varies depending on the type of storage disorder. This can include lipids (fats), carbohydrates, proteins, or mucopolysaccharides. The location of the buildup also differs, affecting organs such as the liver, spleen, brain, bones, or eyes. Symptoms can manifest in infancy, childhood, or adulthood, and their severity depends on the specific disorder and the extent of substance accumulation.

Common signs and symptoms may include enlarged liver and spleen (hepatosplenomegaly), skeletal abnormalities, developmental delays, neurological problems, and organ damage. Diagnosis typically involves a combination of clinical evaluation, biochemical tests to measure the levels of accumulated substances, and genetic testing to identify the underlying mutation.

There is currently no cure for most storage disorders. Treatment focuses on managing symptoms, slowing disease progression, and improving quality of life. This can involve enzyme replacement therapy, substrate reduction therapy, hematopoietic stem cell transplantation, or supportive care. Research into new therapies and potential cures is ongoing.