glycogen storage disease Flashcards
what is the Rate limiting enzyme for glycogen synthesis?
glycogen synthase
whats the rate limiting enzyme for glycogenolysis
glycogen phosphorylase
which enzyme turns
glucose -6- phosphate –> glucose
Glucose-6- phosphatase
which glycogen storage disease?
glycogen phosphorylase
deficiency
McArdle disease
which glycogen storage disease?
Glucose-6-phosphatase
dificiency
Von Gierke Disease
which glycogen storage disease?
Lactic acidosis
Hyperlipidemia
Hyperuricemia (gout)
Von Gierke disease
which glycogen storage disease?
a- 1,6- glucosidase
(debranching enzyme)
deficiency
Cori Disease
which glycogen storage disease?
a-1,4-glucosidase
(lysosomal acid a-1,4-glucosidase)
deficiency
Uworld: Acid a-glucosidase
Pompe disease
which glycogen storage disease?
cardiomegaly
(hypertrophic cardiomyopathy)
Pompe disease
(infantile type)
which glycogen storage disease?
Diaphragm weakness leading to respiratory failure
pomple disease
(adult type)
which glycogen storage disease?
Increased glycogen in liver
severe fasting HYPOglycemia
Von gierke disease
which glycogen storage disease?
hepatomegaly
hypoglycemia
hyperlipidemia
(NORMAL kidneys,
Normal lactate,
Normal Uric acid)
MUSCLE WEAKNESS / HYPOTONIA
Cori disease
which glycogen storage disease?
Painful muscle Cramps
myoglobinuria w/ strenuous exercise
McArdle Disease
Severe hepatosplenomegaly
Enlarged kidneys
Normal muscles
Von Gierke disease
normal muscles in contrast to
CORI disease (muscle weakness, hypotonia)
which glycogen storage disease?
accumulation of
limit dextrin like structures in cytosol
cori disease
which glycogen storage disease?
effects
heart
liver
muscle
pompe disease
cardiomegaly
hypotonia
exercise intolerance
inc LDH, inc CK
accumulate glycogen in LYSOSOMES
POMPE
which glycogen storage disease?
accumulate glycogen in lysosomes
enlarged muscles (tongue - macroglossia, enlarged liver)
pompe disease (type II)
treatment of Von Gierke
frequent oral glucose/cornstarch at night
*** AVOIDANCE of
Frucrtose, Galactose, sucrose, lactose.
bc impaired gluconeogenesis and glycogenolysis
treatment for pt that develops extensive muscle cramps and darkening of her urine after excerise.
Labs show inc CK, myoglobin
Oral ingestin of Sucrose
