Lysosomal Storage Disorders Flashcards
1
Q
What do lysosomes degrade?
A
GAGs (mucopolysaccharides)
sphingolipids (glycolipids and spingophospholipids)
glycogen
2
Q
at what pH are lysosomal enzymes active?
A
ph of 5 - acidic
3
Q
compare the rates of biosynthesis vs. degradation?
A
biosyn. rate is normal
degradation rate is slow - deficient enzymes
4
Q
what is the result of lysosomal storage disorders? - because of accumulation of substrate?
A
organ damage
5
Q
what are most of the LSDs - genetically?
A
autosomal recessive disorders
6
Q
what do LSDs commonly affect?
A
infants and young children
7
Q
what gives rise to hepatosplenomegaly in LSDs?
A
storage of insoluble intermediates in the mononuclear phagocyte system
8
Q
what type of involvement is associated with LSDs?
A
CNS involvement = neuronal damage
