lipidikertymiksi
Lipid accumulation disorders, also known as lipid storage diseases or lipidoses, are a group of inherited metabolic disorders that affect the body's ability to process lipids. These disorders are caused by genetic mutations that lead to the deficiency of specific enzymes responsible for breaking down or transporting lipids. As a result, lipids accumulate in various tissues and organs, including the liver, spleen, brain, and bone marrow, leading to progressive cellular damage and organ dysfunction.
There are numerous types of lipid accumulation disorders, each characterized by the accumulation of a specific
Diagnosis typically involves a combination of clinical evaluation, biochemical tests to measure enzyme activity and lipid