Varastoitumissairaus

Varastoitumissairaus, also known as storage disease, is a group of rare genetic disorders characterized by the body's inability to properly break down and eliminate certain substances. This leads to the accumulation of these substances in cells, tissues, and organs, causing progressive damage. The specific substance that accumulates varies depending on the type of storage disease, and can include fats, carbohydrates, proteins, or complex sugars.

These diseases are inherited in an autosomal recessive pattern, meaning an individual must inherit a faulty gene from both parents to be affected. The symptoms and severity of storage diseases can vary widely, ranging from mild to severe and life-threatening. Onset can occur at birth, in childhood, or even in adulthood. Common symptoms may include developmental delays, intellectual disability, organ enlargement (such as the liver and spleen), skeletal abnormalities, neurological problems, and vision or hearing impairment.

Diagnosis typically involves a combination of clinical examination, biochemical tests to measure enzyme levels and accumulated substances, and genetic testing. Treatment options are limited and often focus on managing symptoms and slowing disease progression. Enzyme replacement therapy, substrate reduction therapy, and hematopoietic stem cell transplantation are available for some specific storage diseases. Research into new therapies and potential cures is ongoing for many of these complex conditions.