Kertymäsairaudet
Kertymäsairaudet, also known as storage diseases, are a group of genetic disorders characterized by the abnormal accumulation of specific substances within cells. These substances can be lipids, carbohydrates, proteins, or other molecules, and their buildup occurs because the body lacks the necessary enzymes to break them down or transport them properly. This accumulation can occur in various organs and tissues, including the liver, spleen, brain, heart, and joints, leading to progressive cellular damage and dysfunction.
The underlying cause of kertymäsairaudet is typically a mutation in a gene that codes for a specific
Diagnosis of kertymäsairaudet often involves a combination of clinical evaluation, biochemical tests to measure enzyme activity