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
Common signs and symptoms may include enlarged liver and spleen (hepatosplenomegaly), skeletal abnormalities, developmental delays, neurological
There is currently no cure for most storage disorders. Treatment focuses on managing symptoms, slowing disease