lysosomal storage disease

https://doi.org/10.1351/goldbook.10907
One of a group of rare inherited metabolic disorders resulting from a defect in lysosomal function, commonly a deficiency of enzymes required for the metabolism of lipids, glycoproteins, or mucopolysaccharides, resulting in their accumulation in the cell.
Source:
PAC, 2016, 88, 713. (Glossary of terms used in developmental and reproductive toxicology (IUPAC Recommendations 2016)) on page 774 [Terms] [Paper]