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LYSOSOMAL STORAGE DISEASES
Author(s) -
JOLLY R. D.
Publication year - 1978
Publication title -
neuropathology and applied neurobiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.538
H-Index - 95
eISSN - 1365-2990
pISSN - 0305-1846
DOI - 10.1111/j.1365-2990.1978.tb01353.x
Subject(s) - lysosomal storage disease , lysosomal storage disorders , central nervous system , biology , abortion , prenatal diagnosis , lysosome , medicine , fetus , pathology , pregnancy , disease , enzyme , endocrinology , genetics , biochemistry
The majority of lysosomal storage diseases affect the central nervous system. Those that reflect a primary lysosomal disorder are associated with genetically determined deficiencies of specific lysosomal enzymes and storage of the relevant substrate. Autofluorescent lipopigments accumulate in the ceroid‐lipofuscinoses, a heterogeneous group of diseases in which lysosomal storage is thought to be a secondary event. In animals, there occurs a group of toxic storage diseases whose pathology mimics that of some of the genetic diseases. In humans some element of control may be achieved by heterozygote detection programmes and/or prenatal diagnosis of pregnancies at risk with elective abortion of an affected foetus. The outlook for specific therapy is not encouraging at this stage.