6.6

Question 1

Inclusion cell disease

Answer 1

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

Question 2

collagen synthesis steps

Answer 2

1. alpha chains- Glycine-X-Y
2. hydroxylate proline and lysine
3. glycosylation –> triple helix
4. exocytosis
5. procollagen cleaved to –> tropocollagen
6. cross link- lysyl oxidase

Question 3

menkes disease

Answer 3

x linked ATP4A defect–> cant absorb/transport copper (cofactor for lysyl oxidase)

no lysyl oxidase –> brittle hair, growth retard, hypotonia

Question 4

myotonic dystrophy type 1

Answer 4

aut dom- CTG repeat–> DMPK gene

myotonia, muscle wasting, cataracts, testicular atrophy, balding, arrythmia

Question 5

trinucleotide repeat for fragile x syn

Answer 5

CGG

Question 6

cri du chat

Answer 6

microdeletion of chrom 5

microcephaly, ID, high pitched cry, epicanthal folds, VSD

Question 7

which chromosome is williams syndrome

Answer 7

microdeletion of long arm of chrom 7

Question 8

hyperchylomicronemia

Answer 8

aut rec

LPL or apo C-II def

pancreatits, HSM, xanthomas

no atherosclerosis!

Question 9

malonyl CoA inhibits

Answer 9

beta oxidation RLS