Glycogen Storage Diseases

Question 1

Fabry’s Disease

Answer 1

XR Alpha galactosidase deficiency, ceramide trihexose builds up. Causes peripheral neuropathy, ANGIOKERATOMAS, cardiovascular and renal disease.

Question 2

Fabry’s Disease

Answer 2

XR Alpha galactosidase deficiency, ceramide trihexose builds up. Causes peripheral neuropathy, cardiovascular and renal disease.

Question 3

Gaucher Disease

Answer 3

AR Glucocerebrosidase deficiency, glucocerebroside builds up. Hepatosplenomegaly, pancytopenia, necrosis of femur. Gaucher cells are macrophages with lipids like crumpled up tissue paper. Treat with glucocerebrosidase

Question 4

Niemann-Pick Disease

Answer 4

AR Sphingomyelinase deficiency, sphingomyelin builds up. Causes progressive neurodegeneration, hepatosplenomegaly, cherry red spot on macula, foam cells

Question 5

Tay-Sachs Disease

Answer 5

AR Hexosaminidase A deficiency, GM2 ganglioside builds up. Causes cherry red spot on macula, NO hepatospleno megaly, developmental delay with progressive neurodegeneration.

Question 6

Krabbe’s Disease

Answer 6

AR galactocerebrosidase deficiency, galactocerebroside and psychosine builds up. Causes peripheral neuropathy, developmental delay, optic atrophy, globoid cells.

Question 7

Metachromatic Leukodystrophy

Answer 7

AR Arylsulfatase A deficiency, cerebroside sulfate builds up. Causes central and peripheral demyelination with ataxia and dementia.

Question 8

Gaucher Disease

Answer 8

AR Glucocerebrosidase deficiency, glucocerebroside builds up. Hepatosplenomegaly, pancytopenia, NECROSIS OF FEMUR. Gaucher cells are macrophages with lipids like crumpled up tissue paper. Treat with glucocerebrosidase

Question 9

Niemann-Pick Disease

Answer 9

AR Sphingomyelinase deficiency, sphingomyelin builds up. Causes progressive neurodegeneration, HEPATOSPLENOMEGALY, cherry red spot on macula, foam cells

Question 10

Tay-Sachs Disease

Answer 10

AR Hexosaminidase A deficiency, GM2 ganglioside builds up. Causes cherry red spot on macula, NO hepatosplenomegaly, developmental delay with progressive neurodegeneration.

Question 11

Metachromatic Leukodystrophy

Answer 11

AR Arylsulfatase A deficiency, cerebroside sulfate builds up. Causes central and peripheral demyelination with ATAXIA and dementia.

Question 12

Metachromatic Leukodystrophy

Answer 12

AR Arylsulfatase A deficiency, cerebroside sulfate builds up. Causes central and peripheral demyelination with ATAXIA and dementia.

Question 13

Two mucopolysacchridoses

Answer 13

Hurler Syndrome

Hunter Syndrome

Question 14

Hurler Syndrome

Answer 14

Deficiency in alpha-L-iduronidase, heparan sulfate and dermatan sulfate will build up. Causes gargoylism, corneal clouding, airway obstruction, developmental delay, and hepatosplenomegaly.

Question 15

Hunter Syndrome

Answer 15

Deficiency in Iduronate sulfatase, heparan sulfate and dermatan sulfate will build up. Causes mild hurler syndrome with more aggressive behavior and no corneal clouding.

Question 16

Hunter Syndrome

Answer 16

Deficiency in Iduronate sulfatase, heparan sulfate and dermatan sulfate will build up. Causes mild hurler syndrome with more aggressive behavior and no corneal clouding.

Question 17

Carnitine Deficiency

Answer 17

No function of carnitine shuttle so can’t break move long chain fatty acid products into the mitochondria. Causes hypoketotic hyperglycemia, weakness, hypotonia.

Question 18

Acyl-CoA dehydrogenase deficiency

Answer 18

Increase in dicarboxylic acids, decrease in glucose and ketones. Treatment, avoid fasting.

Question 19

Acyl-CoA dehydrogenase deficiency

Answer 19

Increase in dicarboxylic acids, decrease in glucose and ketones. Treatment, avoid fasting.

Question 20

Type I Glycogen Storage Disease (Van Gierke)

Answer 20

Deficiency in glucose 6 phosphatase. Affects mainly liver, then kidneys. Increased G6P in cell, which activates glycogen synthase, so glycogen stores increase dramatically. This causes a severe fasting hypoglycemia, hepatomegaly, and increased blood lactate. Give frequent glucose/cornstarch. Avoid fructose and galactose.

Question 21

Type I Glycogen Storage Disease (Van Gierke)

Answer 21

Deficiency in glucose 6 phosphatase. Affects mainly liver, then kidneys. Increased G6P in cell, which activates glycogen synthase, so glycogen stores increase dramatically. This causes a severe fasting hypoglycemia, hepatomegaly, and increased blood lactate. Give frequent glucose/cornstarch. Avoid fructose and galactose.

Autosomal recessive

Question 22

Type II glycogen storage disorder (Pompe’s Disease)

Answer 22

Due to a deficiency in lysosomal alpha 1,4 glucosidase. Causes cardiomyopathy, exercise intolerance, and liver problems. Leads to early death.

Question 23

Type III glycogen storage disorder (Cori Disease)

Answer 23

Due to a deficiency in debranching enzyme (1,6 glucosidase). Causes a milder form of von Gierkes with hepatomegaly, delayed growth, fasting hypoglycemia (doesn’t affect gluconeogenesis though, so not as severe).

Question 24

Type V glycogen storage disorder (McArdle Disease)

Answer 24

Due to a deficiency in skeletal muscle glycogen phosphorylase. Causes increased glycogen in muscle, can’t break down causing muscle cramps, myoglobinuria with strenuous exercise, and electolyte abnormality-induced arrhythmias.