MCM Final - Lysosomal Storage Diseases

Question 1

does lack of fever rule out infection in infant?

Answer 1

no

Question 2

when should growth in child considered significant?

Answer 2

when deviate from normal pattern of growth

Question 3

beckwith whitman

Answer 3

changes in size > large tongue

Question 4

pompe’s disease

Answer 4

lysosomal storage disease

Question 5

red reflex in infant

Answer 5

look in the eyes

Question 6

retinoblastoma

Answer 6

cancer of eye

Question 7

lab indication of inborn error?

Answer 7

metabolic acidosis

Question 8

hyperammonia indication of what?

Answer 8

urea cycle defect

Question 9

why biopsy muscle vs. liver?

Answer 9

biopsy the muscle (bc liver harder to get to, and if have problems with coagulation you’ll bleed alot)

Question 10

alpha 1,4 glucosidase

Answer 10

enzyme within the lysosome - doesn’t break glycogen to glucose (deficient in pompes)

Question 11

treatment of pompe’s

Answer 11

enzyme replacement (if give orally, proteases break it down)

use recombinant alpha glucosidase

there is a point where the antibodies produced by the immune system degrade protein

Question 12

gauche’s disease

Answer 12

improper folding protein

treatment - chaperones (to assist folding)

Question 13

three treatment methods for lysosomal storage diseases

Answer 13

1 enzyme replacement therapy
2 substrate reduction therapy
3 molecular chaperone therapy

Question 14

Tay Sach’s disease

Answer 14

lysosomal storage disease

can’t break down gangliosides

• lots in brain
• enzyme deficient - hexosaminidase A

look at retina - cherry red spot

Question 15

niemann pick type A and B

Answer 15

lysosomal storage disease

can’t break down sphingomyelin

• enzyme deficient - sphingomyelinase
• enlarged spleen

Question 16

niemann pick type C

Answer 16

defect in lipid transport
-leads to accumulation of cholesterol and gangliosides

due to mutations in NPC1 and NPC2

Question 17

Gaucher Disease

Answer 17

autosomal recessive lysosomal storage disease
deficient enzyme - glucocerebroside

accumulation of glucocerebroside

Question 18

mucopolysaccharidoses

Answer 18

lysosomal storage disease

accumulation of mucopolysaccharides

coarse facial features, cloudy cornea, joint stiffness, mental retardation

includes hurler and hunter syndrome

Question 19

three subgroups of glycogen storage diseases

Answer 19

hepatic forms, myopathic forms, miscellaneous types

Question 20

limit dextrin

Answer 20

product of glycogen breakdown

broken down by debranching enzyme into glucose