Intro

Question 1

Lesh Nyan defect and disease

Answer 1

HGPRT deficiency

hyperuricemia, gout, self mutilation, retardation

Question 2

treatment for lesh nyan

Answer 2

allopurinol -decrease de novo synthesis of purines

Question 3

xeroderma pigmentosum defect

Answer 3

nucleotide excision repair

Question 4

nonhomologous joining defect

Answer 4

fanconi syndrome

ataxia telangeiectasia

Question 5

Telomerase defect

Answer 5

Bloom Syndrome - premature aging

Question 6

I cell disease

Answer 6

failure to phosphorylate mannose (form mannose 6P)
enzymes aren’t targeted for lysosome

coarse features, clouded corneas, inc lysosomal enzymes in serum

Question 7

Zelwegger syndrome

Answer 7

defect of peroxisome

buildup of LCFAs

Question 8

mismatch repair - what disease

Answer 8

HNPCC

Question 9

orotic aciduria

Answer 9

UMP synthetase is deficient - de novo pyridine

megaloblastic anemia refractory to folate and B12

Question 10

how does orotic aciduria differ from OTC deficiency

Answer 10

no hyperammonemia

Question 11

treatment for orotic aciduria

Answer 11

UMP

Question 12

adrenoleukodystrophy

Answer 12

increased LCFAs in CNS, testes, adrenals

xlinked

Question 13

NF1

Answer 13

Gliomas, neuromas, phoes, lish nodules, cafe aulait

Question 14

NF2

Answer 14

Scwhannomas, meningiomas

Question 15

VHL

Answer 15

cerebellar heangioblastomas, renal cell carcinoma