Our science about Lysosomal Storage Disorders
Lysosomal storage diseases (LSDs) are a group of over 70 rare genetic metabolic diseases that are characterized by lysosomal dysfunction, most of which are inherited as autosomal recessive traits. These disorders are individually rare, but collectively affect 1 in 5,000 live births. They typically present in infancy and childhood, although adult-onset forms also occur. Most LSDs have a progressive neurodegenerative clinical course, although symptoms in other organ systems are frequent. LSD-associated genes encode different lysosomal proteins, including lysosomal enzymes and lysosomal membrane protein (Platt et al, 2018).
They are mainly caused by genetic mutations affecting the function of specific enzymes, transporters, receptors or hormones involved in metabolizing and transporting the body’s building blocks such as sugars, proteins and lipids.. read more