Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone Health provides an overview of the mucopolysaccharidoses (MPSs) a group of rare, inherited lysosomal storage disorders that are clinically characterized by abnormalities in multiple organ systems and reduced life expectancy.
Lysosomal storage disorders (LSDs) are a group of about 50 genetic diseases caused by defects in lysosomal proteins or lysosomal related-proteins, which results in dysfunction of lysosomes.
Niemann-Pick disease (NPD) is a group of inherited metabolic disorders in which harmful quantities of a fatty substance (lipids) accumulate in the spleen, liver, lungs, bone marrow, and brain.
Menkes disease is a disorder that affects copper levels in the body. It is characterized by sparse, kinky hair; failure to thrive; and progressive deterioration of the nervous system.
Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, is a rare, progressive lysosomal storage disease first described in 1973 by Dr. William Sly. It is caused by the inherited deficiency of the β-glucuronidase enzyme due to mutations in the beta-glucuronidase (GUSB) gene.