Storage Diseases

Question 1

symptoms: type I glycogen storage disease

Answer 1

Von Gierke’s: severe fasting hypoglycemia, glycogen accumulation in liver/hepatomegaly, high serum lactate

Question 2

symptoms: type II glycogen storage disease

Answer 2

Pompe’s disease: Pump Cardiomegaly, systemic muscle and liver damage. Early death.

Question 3

symptoms: type III glycogen storage disease

Answer 3

Cori’s disease: milder form of type I cause gluconeogenisis is intact. so no blood lactate

Question 4

symptoms: type V glycogen storage disease

Answer 4

McArdle’s disease: Muscle. high glycogen in muscle but can’t break it down. cramps, myoglobinuria, exercise intolerance.

Question 5

genetics of all glycogen storage disease

Answer 5

autosomal recessive

Question 6

Lysosomal Storage disease: Fabry’s disease defect and accumulation

Answer 6

alpha-galactosidase A def, Ceramide trihexoside

Question 7

Lysosomal Storage disease: Gaucher’s disease deficit and accumulated product

Answer 7

Glucocerebrosidease, glucocerebroside

Question 8

Lysosomal Storage disease: Niemann-Pick’s disease deficit and accumulated product

Answer 8

Sphingomyelinase, Sphingomyelin

Question 9

Lysosomal Storage disease: Taysach’s disease deficit and accumulated product

Answer 9

Hexosaminidase A, GM2 ganglioside

Question 10

Lysosomal Storage disease: Krabbe’s disease deficit and accumulated product

Answer 10

galactocerebrosidease, galactocerebroside

Question 11

Lysosomal Storage disease: Metachromatic leukodystrophy disease deficit and accumulated product

Answer 11

Arylsulfatase A, cerebroside sulfate

Question 12

Lysosomal Storage disease: Hurler/Hunter’s syndrome deficit and accumulated product

Answer 12

alpha-L-iduronidase/Iduronate sulfatase, Heparan sulfate and dermatan sulfate

Question 13

Fabry’s disease genetics and findings

Answer 13

peripheral neuropathy (pain hand/feet), angiokeratomas, CV/renal disease. X-linked recessive

Question 14

Gaucher’s disease genetics and findings

Answer 14

Autosomal Recessive. Most common lyso storage. Hepatosplenomegaly, aseptic necrosis of the femur, bone crisis, macrophages that look like crumpled tissue paper

Question 15

Niemann-Pick’s disease genetics and findings

Answer 15

Autosomal recessive: Cherry-red spot on macula + hepatosplenomegally, foam cells, neurodegeneration

Question 16

Tay-Sach’s disease genetics and findings

Answer 16

Autosomal Recessive: cherry-red spot on macula but no hepatomegaly, lysosomes with onion skin, neurodegeneration

Question 17

Krabbe’s disease genetics and findings

Answer 17

AR: development delay, optic atrophy, peripheral neuropathy, globoid cells

Question 18

Metachromatic leukodestrophy genetics and findings

Answer 18

AR: Central and peripheral demyelination with ataxia and dementia

Question 19

Hurler’s syndrome genetics and findings

Answer 19

AR: gargoylism, developmental dealy, corneal clouding, airway obstruction , hepatomegaly

Question 20

Hunter’s syndrome genetics and findings

Answer 20

XR: mild version of hurlers but aggressive behavior and no corneal clouding

Question 21

Names of defecets of glycogen storage diseases (4)

Answer 21

I: Von Gierke (Glucose-6-phosphatase) II: Pompe’s (Lysosomal alpha-1,4-glucosidase) III: Cori’s (debranching enzyme alpha-1,6-glucosidase) V: McArdle’s (Skeletal muscle myophosphorylase)