Glycogen Storage Diseases Flashcards
Fabry’s Disease
XR Alpha galactosidase deficiency, ceramide trihexose builds up. Causes peripheral neuropathy, ANGIOKERATOMAS, cardiovascular and renal disease.
Fabry’s Disease
XR Alpha galactosidase deficiency, ceramide trihexose builds up. Causes peripheral neuropathy, cardiovascular and renal disease.
Gaucher Disease
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
Niemann-Pick Disease
AR Sphingomyelinase deficiency, sphingomyelin builds up. Causes progressive neurodegeneration, hepatosplenomegaly, cherry red spot on macula, foam cells
Tay-Sachs Disease
AR Hexosaminidase A deficiency, GM2 ganglioside builds up. Causes cherry red spot on macula, NO hepatospleno megaly, developmental delay with progressive neurodegeneration.
Krabbe’s Disease
AR galactocerebrosidase deficiency, galactocerebroside and psychosine builds up. Causes peripheral neuropathy, developmental delay, optic atrophy, globoid cells.
Metachromatic Leukodystrophy
AR Arylsulfatase A deficiency, cerebroside sulfate builds up. Causes central and peripheral demyelination with ataxia and dementia.
Gaucher Disease
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
Niemann-Pick Disease
AR Sphingomyelinase deficiency, sphingomyelin builds up. Causes progressive neurodegeneration, HEPATOSPLENOMEGALY, cherry red spot on macula, foam cells
Tay-Sachs Disease
AR Hexosaminidase A deficiency, GM2 ganglioside builds up. Causes cherry red spot on macula, NO hepatosplenomegaly, developmental delay with progressive neurodegeneration.
Metachromatic Leukodystrophy
AR Arylsulfatase A deficiency, cerebroside sulfate builds up. Causes central and peripheral demyelination with ATAXIA and dementia.
Metachromatic Leukodystrophy
AR Arylsulfatase A deficiency, cerebroside sulfate builds up. Causes central and peripheral demyelination with ATAXIA and dementia.
Two mucopolysacchridoses
Hurler Syndrome
Hunter Syndrome
Hurler Syndrome
Deficiency in alpha-L-iduronidase, heparan sulfate and dermatan sulfate will build up. Causes gargoylism, corneal clouding, airway obstruction, developmental delay, and hepatosplenomegaly.
Hunter Syndrome
Deficiency in Iduronate sulfatase, heparan sulfate and dermatan sulfate will build up. Causes mild hurler syndrome with more aggressive behavior and no corneal clouding.
Hunter Syndrome
Deficiency in Iduronate sulfatase, heparan sulfate and dermatan sulfate will build up. Causes mild hurler syndrome with more aggressive behavior and no corneal clouding.
Carnitine Deficiency
No function of carnitine shuttle so can’t break move long chain fatty acid products into the mitochondria. Causes hypoketotic hyperglycemia, weakness, hypotonia.
Acyl-CoA dehydrogenase deficiency
Increase in dicarboxylic acids, decrease in glucose and ketones. Treatment, avoid fasting.
Acyl-CoA dehydrogenase deficiency
Increase in dicarboxylic acids, decrease in glucose and ketones. Treatment, avoid fasting.
Type I Glycogen Storage Disease (Van Gierke)
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.
Type I Glycogen Storage Disease (Van Gierke)
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
Type II glycogen storage disorder (Pompe’s Disease)
Due to a deficiency in lysosomal alpha 1,4 glucosidase. Causes cardiomyopathy, exercise intolerance, and liver problems. Leads to early death.
Type III glycogen storage disorder (Cori Disease)
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).
Type V glycogen storage disorder (McArdle Disease)
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.
