glycogen storage and lysosome diseases

Question 1

order of glycogen storage diseases

Answer 1

1. von gierke
2. pompe
3. cori
4. mcardle

Question 2

von gierke deficient

Answer 2

G6 phosphatase

Question 3

von gierke symptoms

Answer 3

fasting hypoglycemia

inc lactate, inc uric acid, hepatomegaly

Question 4

pompe disease deficient

Answer 4

lysosomal alpha 1, 4 glucosidase

Question 5

pompe symptoms

Answer 5

hypertrophic cardiomyopathy, hepatomegaly , exercise intolerance, liver issues

Question 6

cori deficient

Answer 6

debranching alpha 1, 6 glucosidase

Question 7

symptoms of cori

Answer 7

milder form of von gierke but no increase lactate

Question 8

mcardle deficient

Answer 8

skeletal muscle glycogen phosphorylase (myophosphorylase)

Question 9

mcardle symptoms

is glucose increased or decreased

Answer 9

myoglobinuria with exercise

normal glucose levels

Question 10

fabry deficient

Answer 10

alpha galactosidase A

inc ceramide trihexoside

Question 11

symptoms of fabry

Answer 11

peripheral neuropathy, angiokeratomas, CV and renal isseus

Question 12

gaucher deficient

Answer 12

inc glucocerebroside

glucocerebrosidase

Question 13

symptoms of gaucher

Answer 13

crumpled tissue paper macros, HSM, osteoporosis, Panctyopenia, aseptic necrosis

Question 14

symptoms of niemann pick

Answer 14

regression of motor skills

neurodegeneration, HSM, lipid macros, cherry red

Question 15

tay sachs deficient

Answer 15

hexoamindase A

inc GM 2 ganglioside

Question 16

if both niemann pick and tay sachs have cherry red how do you differentiate

Answer 16

no HSM in tay sachs

Question 17

krabbe deficient

Answer 17

galactocerebrosidase

galactocerebroside

Question 18

krabbe symptoms

Answer 18

peripheral neuropathy, optic atrophy, globoid cells

Question 19

metachromatic leukodystrophy deficient

Answer 19

aryl sulfatase A

cerebroside sulfate

Question 20

metachromatic leukodystrophy symptoms

Answer 20

demyelination - ataxia and dementia

Question 21

hurler and hunter have inc

Answer 21

heparan sulfate and dermatan sulfate

Question 22

how do you tell the difference btwn hurler and hunter

Answer 22

hurler - a l iduronidase
hunter - iduronate sulfatase
more aggressive and no corneal clouding

Question 23

which two are x linked recessive vs the rest that are all autorecessive

Answer 23

hunter and fabry

Question 24

I cell disease

Answer 24

failure to create Mannose 6P to direct to lysosomes
increase levels of lysosomal enzymes in cytosol
coarse features, clouded corneas
dysotosis multiplex

Question 25

what is dysotosis multiplex

Answer 25

seen in MPS diseases abnormally shaped vertebrae and ribs, enlarged skull, spatulate ribs, hypoplastic epiphyses, thickened diaphyses and bullet-shaped metacarpals, thoracolumbar kyphosis