Lipids IV Flashcards
what does degradation of glycolipids require
sequential action of different glycosidases with high substrate specificty
defect in tay sachs
beta hexosamidase A
what accuulates in tay sachs
ganglioside
symptoms of tay sachs
intellectual disability
blindness
cherry macula
death before age 3
defect in gaucher
beta glucosidase
what accumulates in gaucher disease
glucocerebroside
symptom of gaucher disease
liver and spleen enlargement
erosion o flong bones
defect in fabry disease
alpha-galactosidase
what accumulates in fabry disease
ceramide rihexoside
symptom of fabry disease
skin rash
kidney failure
defect in neimann pick disease
spingomyelinase
what accumualtes in neimann pick diseas
sphingomylen
presentation of neimann pick disease
liver and splenn enlargement
intelluctal disability
defect in sandhoff disaes
beta hexosamindase A and B
what accumulates in sandhoff disease
ganglioside
globosides
what is symptoms of sandhoff disease
like tay sachs but progresses more rapidly
defect in metachromatic leukodystrophy
arysulfatase
what accumulates in metachromatic leukodystrophy
sulfatide
what is the presentation of metachromatic leukodystrophy
intellectual disablity
when does synthesisi of cholesterol happen
well fed state
what is the rate limiting step of synthesis of cholesterol
HMG-CoA reductase reaction
what is farnesyl-PP important for
making dolichol-P
prenylation of proteins
precursoe for coenzyme Q
waht is dolichol-P used for
N-linked glycosylation of proteins
what is prenylation of proetins used for
post translation addition of a lipid to membrane anchored proteins
