GSD + LSD

Findings (GSD)

100

This GSD involves painful muscle cramps, myoglobinuria with strenuous exercise, and arrhythmia from electrolyte imbalances. The "second-wind" phenomenon is noted during exercise. 

McArdle disease (type V)

200

Cardiomegaly, hypertrophic cardiomyopathy, hypotonia, exercise intolerance, and systemic findings lead to early death in this GSD.

Pompe disease (type II)

300

This GSD presents as a milder form of von Gierke (type I) with normal blood lactate levels as gluconeogenesis remains intact. 

Cori disease (type III)

400

This GSD presents with severe fasting hypoglycemia, increased glycogen storage in the liver and kidneys, along with increased blood lactate, triglycerides, and uric acid. Hepatomegaly and renomegaly are common. Gluconeogenesis and glycogenolysis are impaired. 

Von Gierke disease (type I)

500

This GSD involves the accumulation of limit dextrin-like structures in the cytosol. 

Cori disease (type III)

Findings (LSD)

100

This sphingolipidosis presents in infancy with progressive neurodegeneration, developmental delay, hyperreflexia, hyperacusis (normal sounds are painfully loud), "cherry-red" spot on macula, lysosomes with onion skin, and NO hepatomegaly. 

Tay-Sachs disease

200

This sphingolipidosis is the most common LSD. It presents with hepatosplenomegaly, pancytopenia, osteoporosis, avascular necrosis of the femur, bone crises, and lipid-laden macrophages resembling crumpled tissue paper. 

Gaucher disease

300

This LSD is a sphingolipidosis that presents with progressive neurodegeneration, foam cells, a cherry-red spot on the macula, and hepatosplenomegaly. 

Niemann-Pick disease

400

This sphingolipidosis presents early with a triad of episodic peripheral neuropathy, angiokeratomas, and hypohidrosis. Later it also involves progressive renal failure and cardiovascular disease. 

Fabry disease

500

This LSD is a mucopolysaccharidosis that involves developmental delay, gargoylism, airway obstruction, corneal clouding, and hepatosplenomegaly. 

Hurler syndrome

Deficient Enzyme (GSD)

100

Enzyme deficiency in Von Gierke's (type I)

Glucose-6-phosphatase

200

Enzyme deficiency in Pompe disease (type II)

Lysosomal acid alpha-1,4-glucosidase (acid maltase)

300

Enzyme deficiency in Cori disease (type III)

Debranching enzyme (alpha-1,6-glucosidase)

400

Enzyme deficiency in McArdle disease (type V)

Skeletal muscle glycogen phosphorylase (Myophosphorylase)

Deficient Enzyme (LSD)

100

Enzyme deficiency in Tay-Sachs

Hexosaminidase A

200

Enzyme deficiency in Gaucher's disease

Glucocerebrosidase

300

Enzyme deficiency in Fabry disease

Alpha-2-galactosidase A

400

Enzyme deficiency in Niemann-Pick disease

Sphingomyelinase

500

Enzyme deficiency in Krabbe disease

Galactocerebrosidase

Fun Facts

100

These three lysosomal storage diseases are more common in Ashkenazi Jews

Tay-Sachs, Niemann-Pick, Gaucher

200

These two lysosomal storage diseases are treatable with recombinant enzyme replacement

Fabry disease and Gaucher disease

300

This is the #1 cause of death in Pompe disease

Heart failure

400

This is the treatment for Von Gierke disease

Oral cornstarch between meals

- avoid fructose, galactose, and sucrose

500

This physiologic process is responsible for the "second-wind" phenomenon observed in McArdle disease

Anaerobic metabolism is blocked; Increased muscular blood flow leads to switch to aerobic metabolism and a "second-wind"