Lysosomal disorders

Lysosomal storage disorders (LSDs) are a group of over 50 distinct genetic disorders, each one resulting from a deficiency of a lysosomal enzyme/protein activity, or in some cases, from lysosomal activities that are involved in lysosomal biogenesis or protein maturation. Most LSDs are progressive, the majority have a neurodegenerative component and are mostly life-limiting. The lysosome and its constituent parts are referred to as the greater lysosomal system and form a major metabolic regulatory network in eukaryotic cells. The lysosomes are therefore not “end organelles” but a “central metabolic co-ordinator” with a key role in highly complex regulatory and recycling mechanisms that are essential for normal cell function. New treatment strategies are in preclinical and clinical trial stages. This review briefly discusses the pathophysiology, offers a clinical overview of the categories of LSDs based on the accumulating substrate, and reviews treatment modalities available and those on the near horizon.