Lysosomal storage disorders
Lysosomal storage disorders (LSD) are a group of over 70 rare genetic conditions caused by improper lysosome function within cells, leading to organ damage. Lysosomes, the digestive units within cells, break down excess components. In LSD, a defect in lysosome function causes excess substances to build up within the cell. This build-up leads to the cell swelling which in turn affects the proper functioning of the organs these cells comprise.
The symptoms associated with LSD depend on the type of cell where the defect is found. However, even within the same type of LSD, the level of damage varies greatly from person to person. These symptoms may appear before birth, shortly thereafter, during childhood or even in adulthood. The reason some cases present earlier than others remain unclear.
Diagnosis of LSD involves comprehensive assessment and testing, often conducted in specialised lysosomal storage disorder clinics.
Lysosomal storage disorder clinic
Lysosomal storage disorders are currently incurable, and the management strategies offered depend significantly on the specific type of LSD diagnosed. Patients visiting LSD clinics can obtain a diagnosis, receive treatment, and undergo continuous assessment for the most common types of LSD. In the absence of formal management options for the type of LSD you have, the clinic also provides supportive therapies to help manage symptoms and improve quality of life. Services at these clinics are available for both adults and children, ensuring a continuity of care.
Credits:
Ines Djedje – University of Mancheser 5th year medical student