Glycogen Storage Disease FA 2015 pg 110 Flashcards
Von Gierk Disease
Enzyme?
Symptoms?
Inheritance?
Treatment?
glucose 6- phosphatase
Lactic acidosis, hyperlipidemia (high triglycerides), hyperuricemia (gout)
Increased glycogen in liver (hepatomegaly), severe fasting hypoglycemia
Hepatosplenomegally, enlarged kidneys
Autosomal Recessive
Tx: frequent oral glucose/cornstarch; avoidance of fructose and galactose
Pompe Disease
Enzyme?
Inheritance?
Lysosomal alpha-1,4 glucosidase
Autosomal recessive
Two types of Pompe Disease and their clinical presentations?
Infantile:
- severe muscle weakness
- Cardiomegaly
- Heart failure
- Shortened life span
Adult:
- no cardiac involvement
- Gradual onset of skeletal muscle weakness
- Diaphragm weakness –> Respiratory failure
Cori Disease
Enzyme?
Clinical?
Inheritance?
alpha-1,6 - glucosidase deficiency
(aka debranching enzyme)
Hepatomegaly, hypoglycemia (less severe than Von Gierk), hyperlipidemia
- Normal kidneys, lactate, and uric acid levels
- Abnormal glycogen with very short outer chains
Autosomal recessive
McArdle disease
enzyme? Clinical? Why clinical presentation occurs? Inheritance? Tx
Skeletal muscle glycogen phosphorylase
- cannot break alpha 1,4 glycosidic bonds
Painful muscle cramps, myoglobinuria with strenuous exercise (red urine) and arrhythmia from electrolyte abnormalities
High amount of glycogen in muscle increases osmotic pressure and draw in H2O from cells.
Muscle swells and lyses
= Rhabdomyolysis
Autosomal recessive
Tx: vitamin B6 (cofactor
Who is deficient in Glucose 6-phosphatase
Von Gierke disease
Glycogen phosphorylase deficiency
McArdle Disease
Lactic acidosis, hyperlipidemia, hyperuricemia
Von Gierke disease
alpha 1,6 glucosidase deficiency
Cori disease
Alpha 1,4 glucosidase deficiency
Pompe Disease
Cardiomegaly
Pompe disease (infantile)
Diaphragm weakness leading to respiratory failure
Pompe disease (adult)
Increased glycogen in liver, severe fasting hypoglycemia
Von Gierke disease
Hepatomegaly, hypoglycemia
Normal kidneys, lactate, and uric acid
Cori disease
- alpha 1,6 glucosidase deficiency
Painful muscle cramps, myoglobinuria with strenuous exercise
McArdle disease
