Lysosomal storage diseases

A lysosome () is a membrane-bound organelle that is found in all animal cells (except red blood cells), and rarely in plant cells. There are normally hundreds of lysosomes in the cytosol, where they function as the cell's degradation center. Their primary responsibility is for catabolic degradation of proteins, polysaccharides and lipids into their respective building-block molecules: amino acids, monosaccharides, and free fatty acids. The breakdown is done by various enzymes, for example proteases, glycosidases and lipases.

Human medical condition

rare human genetic lysosomal storage disorder

human disease

inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function

Cystinosis is a lysosomal storage disease characterized by the abnormal accumulation of free cystine, the oxidized dimer of the amino acid cysteine in lysosomes, eventually leading to intracellular crystal formation throughout the body, e.g. in kidneys.

Pycnodysostosis () is a lysosomal storage disease of the bone caused by a mutation in the gene that codes the enzyme cathepsin K. It is also known as PKND and PYCD.

Lysosomal storage disease