kertymäsairauksia
Kertymäsairaudet, also known as storage diseases, are a group of genetic disorders characterized by the body's inability to properly metabolize or break down certain substances. This leads to the accumulation of these substances within cells, tissues, and organs, potentially causing significant damage over time. The specific substance that accumulates varies depending on the type of kertymäsairaus.
These diseases are inherited in an autosomal recessive pattern in most cases, meaning an individual must inherit
Symptoms of kertymäsairaudet can be diverse and depend on which substance is accumulating and where it is
Diagnosis typically involves a combination of clinical evaluation, family history, and biochemical testing to identify the
Treatment strategies for kertymäsairaudet are often focused on managing symptoms, as a cure is not always available.