LING 530 Lecture Notes - Lecture 2: Lysosome, Cystinosis, Cholesteryl Ester
27 Jun 2018
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Professor
LSD: rareâŚbut complex!
Part 2: LSD Retrospective
â˘History of the LSD
â˘LSD Sub-Categories
â˘Biochemical and Cellular
basis of LSD
A note from your Note-taker
The professor said that this topic is very
important from the examination point of
view!
â˘Tay-Sachs disease was the first lysosomal
storage disorder (LSD) described, in 1881
â˘Gaucher the second, in 1882
â˘The first link between an enzyme
deficiency and a LSD (ďĄ-glucosidase and
Pompe disease) was published in 1963 by
Hers
â˘The successful treatment of a LSD,
Gaucher disease with β-glucosidase,
became available in the early 1990s
History of the LSDs
Document Summary
Part 2: lsd retrospective: history of the lsd, lsd sub-categories, biochemical and cellular basis of lsd. The professor said that this topic is very important from the examination point of view! History of the lsds: tay-sachs disease was the first lysosomal storage disorder (lsd) described, in 1881, gaucher the second, in 1882, the first link between an enzyme deficiency and a lsd ( -glucosidase and. Hers: the successful treatment of a lsd, Gaucher disease with -glucosidase, became available in the early 1990s. Tay sach"s- common in french canadian and jewish communities. First link between lysosome disease and enzyme deficiency- pompe disease-identified in. First successful treatment of lsd- intravenous injection of beta glucosidase. Lsd sub-categories: sub-categories are based on the type of enzymatic defect and/or stored substrate product, for example, the mucopolysaccharidoses (mps) are grouped together because each results from an enzyme deficiency that causes accumulation of particular glycosaminoglycan (gag) substrates.
