varastointihäiriöissä

Varastointihäiriöissä, known in English as storage disorders or storage diseases, refers to a group of rare genetic metabolic disorders where the body cannot properly break down and eliminate certain substances. These substances, such as fats, carbohydrates, or proteins, accumulate in cells and tissues, leading to cellular damage and organ dysfunction. The specific substance that accumulates and the organs affected vary depending on the type of storage disorder.

These conditions are typically inherited in an autosomal recessive pattern, meaning an individual must inherit two copies of a faulty gene, one from each parent, to develop the disorder. Symptoms can manifest at different ages, from infancy to adulthood, and their severity can also vary greatly. Common symptoms may include enlarged organs (like the liver or spleen), neurological problems, skeletal abnormalities, developmental delays, and recurrent infections.

Diagnosis often involves a combination of clinical evaluation, blood tests to measure enzyme levels or accumulated substances, and sometimes genetic testing. Treatment aims to manage symptoms, slow disease progression, and improve quality of life. This can include enzyme replacement therapy, substrate reduction therapy, bone marrow transplantation, or supportive care for specific organ issues. Due to their genetic nature, early diagnosis and genetic counseling are important aspects of managing varastointihäiriöissä.