6.6 Flashcards
Inclusion cell disease
LSD defect in N-acetylglucosaminyl-1-phosphotransferase –> failure of golgi to psophroylate mannose residues–> proteins secreted extracellularly instead of to lysosomes
coarse facial features, clouded corneas, restricted joint movement
collagen synthesis steps
- alpha chains- Glycine-X-Y
- hydroxylate proline and lysine
- glycosylation –> triple helix
- exocytosis
- procollagen cleaved to –> tropocollagen
- cross link- lysyl oxidase
menkes disease
x linked ATP4A defect–> cant absorb/transport copper (cofactor for lysyl oxidase)
no lysyl oxidase –> brittle hair, growth retard, hypotonia
myotonic dystrophy type 1
aut dom- CTG repeat–> DMPK gene
myotonia, muscle wasting, cataracts, testicular atrophy, balding, arrythmia
trinucleotide repeat for fragile x syn
CGG
cri du chat
microdeletion of chrom 5
microcephaly, ID, high pitched cry, epicanthal folds, VSD
which chromosome is williams syndrome
microdeletion of long arm of chrom 7
hyperchylomicronemia
aut rec
LPL or apo C-II def
pancreatits, HSM, xanthomas
no atherosclerosis!
malonyl CoA inhibits
beta oxidation RLS