Lysosomal Storage Disorders
Lysosomal storage disorders are a group of genetic diseases characterised by deficiencies in lysosomal function that can lead to serious and progressive manifestations in many parts of the body.1
What are Lysosomal Storage Disorders?
Lysosomal storage disorders are a group of inherited metabolic diseases caused by enzyme deficiencies that result in an abnormal build-up of toxic materials in the body’s tissues.1,2 Lysosomes are structures in the cell containing enzymes that break down and recycle substances such as carbohydrates, lipids and proteins.1 Deficiencies in lysosomal enzymes can lead to the accumulation (storage) of undegraded substances in many different tissues and organs, resulting in a wide range of manifestations.1 Lysosomal storage disorders can affect almost any part of the body, including the eyes, skin, heart, lungs, kidneys, brain, nervous system and skeleton.1 Lysosomal storage disorders generally progress over time and often cause physical and neurological disabilities, as well as impacting on life expectancy.1
Types of Lysosomal Storage Disorders
There are more than 50 different lysosomal storage disorders and new ones continue to be identified.1,2 Examples include neuronal ceroid lipofuscinoses (Batten disease), Fabry disease, Gaucher disease and mucopolysaccharidosis (MPS).2
Individually, each of these disorders is rare; however, taken together their prevalence is estimated to be approximately 1 in 8,000 live births.1
Managing Lysosomal Storage Disorders
The wide range of manifestations caused by lysosomal storage disorders means managing patients requires a multidisciplinary approach.1
- Parenti G et al. Lysosomal storage diseases: From pathophysiology to therapy. Annu Rev Med 2015;66:471-86.
- NORD. Lysosomal storage disorders. Available at: https://rarediseases.org/rare-diseases/lysosomal-storage-disorders/. Last accessed March 2021.