Storage diseases

Question 1

glucose-6-phosphatase

Answer 1

Von Gierkes

Question 2

alpha - 1,4 glucosidase (acid maltase)

Answer 2

Pompes

Question 3

Debranching enzyme (alpha-1,6-glucosidase)

Answer 3

Coris

Question 4

skeletal muscle glycogen phosphorylase

Answer 4

McArdles

Question 5

severe fasting hypoglycemia, inc blood lactate, inc uric acid, hepatomegaly, enlarged kidneys

Answer 5

Von Gierkes

Question 6

Infantile: cardiomegaly
Adult: diaphragm weakness, resp failure

Answer 6

pompes

Question 7

milder form of von Geirkes

Answer 7

coris

Question 8

inc glycogen in muscle, painful muscle cramps, myoglobinuria

Answer 8

McArdles

Question 9

All glycogen storage diseases mode of inheritance

Answer 9

autosomal recessive

Question 10

glucocerebrocidase

Answer 10

gauchers

Question 11

hepatosplenomegaly, aseptic necrosis of femur, bone crisis, crumpled tissue paper PAS positive

Answer 11

gauchers

Question 12

sphingomyelinase

Answer 12

niemann-pick

Question 13

progressive neurodegeneration, HEPATOSPLENOMEGALY, cherry-red spot on macula, foam cells

Answer 13

niemann-pick

Question 14

progressive neurodegeneration, cherry-red spot on macula, developmental delay, lysosomes with onion skin

Answer 14

tay-sachs

Question 15

hexosaminidase A

Answer 15

tay-sachs

Question 16

galactocerebrocidase

Answer 16

krabbes

Question 17

peripheral neuropathy, developmental delay, optic atrophy, globoid cells, loss of myelin

Answer 17

krabbes

Question 18

central and peripheral demyelination with ataxia, dementia

Answer 18

metachromatic leukodystrophy

Question 19

arylsulfatase A

Answer 19

metachromatic leukodystrophy

Question 20

peripheral neuropathy of hands and feet, angiokeratomas, cardio/renal disease

Answer 20

fabrys

Question 21

alpha-galactosidase A

Answer 21

fabrys

Question 22

X linked recessive

Answer 22

fabrys