Lysosomal storage disease

{
  "id": "MLC-T-CHM-006855",
  "term": "Lysosomal storage disease",
  "field": "Chemistry",
  "definition": "A group of inherited metabolic disorders resulting from defects in lysosomal function, typically due to enzyme deficiencies. These defects lead to the accumulation of undigested or partially digested macromolecules within lysosomes, causing cellular dysfunction and organ damage. More than 50 distinct lysosomal storage diseases have been identified, each characterized by the specific substance that accumulates.",
  "subject": "Chemistry and Human Health",
  "references": [
    "PAC, 2016, 88, 713. 'Glossary of terms used in developmental and reproductive toxicology (IUPAC Recommendations 2016)' on page 774 (https://doi.org/10.1515/pac-2015-1202)"
  ],
  "url": "https://mlchart.com/terminology/chemistry/lysosomal-storage-disease/"
}