Lysosomal storage disease

A group of inherited metabolic disorders in which impaired lysosomal function prevents normal breakdown or transport of cellular materials, causing them to accumulate inside cells.

Lysosome: A membrane-bound cell organelle that digests and recycles macromolecules and cellular components. Storage diseases arise when this organelle cannot process or move its contents normally.
Gaucher disease: An inherited disorder caused by deficient glucocerebrosidase, leading to glucocerebroside accumulation in cells. It is a common lysosomal storage disease with highly variable severity.
Newborn screening: Testing newborns for selected conditions before symptoms appear, enabling early diagnosis and intervention. Screening programs can detect certain lysosomal diseases before irreversible damage develops.
Mitochondrial disease: A disorder caused by impaired mitochondrial function, often affecting cellular energy production. Both can be inherited metabolic diseases, but the primary organelle defect differs.
Lysosomal enzyme: An enzyme that breaks down specific molecules within lysosomes. Many storage diseases result from inherited loss of one such enzyme.
Tay–Sachs disease: An inherited disorder caused by deficient hexosaminidase A, leading to GM2 ganglioside accumulation, mainly in neurons. Its severe neurological course illustrates the consequences of neuronal substrate accumulation.
Enzyme assay: A laboratory test that measures the activity of a specific enzyme in a sample. Low activity of the implicated lysosomal enzyme can confirm many diagnoses.
Peroxisomal disorder: A genetic disorder caused by impaired formation or function of peroxisomes. Peroxisomal defects also disrupt metabolism but involve a different organelle.
Sphingolipid: A lipid containing a sphingoid backbone, abundant in cell membranes and especially nervous tissue. Defective degradation of particular sphingolipids drives several prominent storage diseases.
Fabry disease: An inherited disorder caused by deficient alpha-galactosidase A, with globotriaosylceramide accumulation in multiple tissues. Its X-linked inheritance and multisystem disease distinguish it from many recessive examples.

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