1. Glycogen storage diseases
CHAUHAN JAYDEEP SINGH

3. Type 1= von gierke disease
Deficient enzyme= glucose 6 phosphatese
glucose 6 p translocate to SER and then converted to glucose by glucose 6 phosphatese
Can be classify in to type 1a &b
Muscle don’t have this enzyme
Impaired gluconeogenesis and glycogenolysis.
Symptoms = Severe fasting hypoglycemia,
Glycogen in liver and kidneys,
blood lactate,
triglycerides,
uric acid (Gout),
and hepatomegaly,
renomegaly.

4. Treatment frequent oral glucose/cornstarch;
avoidance of fructose and galactose.
Give allopurinol

5. Type 3 = cori disease Deficient enzyme = debranching enzyme
symptoms=Similar to von Gierke disease,
but milder symptoms and normal blood lactate levels.
Can lead to cardiomyopathy.
Limit dextrin(short chain)–like structures accumulate in cytosol.
Gluconeogenesis pathway is functional
Diagnosis is by muscle or liver biopsy and CBC.

6. Treatment =
Treatment involves a high protein diet to facilitate the gluoconeogenesis, along
with IV glucose

7. TYPE=6 Hers disease Deficient enzyme = glycogen phosphorylase
Autosomal recessive
Severe or complete deficiency of enzyme then patient can’t compatible with life
If milder deficiency
Symptoms= hepatomegaly

8. Type 5 = McArdle disease
Deficient enzyme =Skeletal muscle glycogen phosphorylase
symptoms=glycogen in muscle,
but muscle cannot break it down
painful muscle cramps,
myoglobinuria (red urine) with strenuous exercise,
and arrhythmia from electrolyte abnormalities.
Blood glucose levels typically unaffected

9. Type 4 Andersen disease Deficient enzyme=Branching enzyme.
Symptoms=Most commonly presents with hepatosplenomegaly and failure to thrive in early infancy.
Other findings include infantile cirrhosis, muscular weakness, hypotonia, cardiomyopathy early childhood death.
Hypogylcemia occurs late in this disease

10. Type 2 = pompe’s disease
Deficient enzyme=Lysosomal acid α-1,4- glucosidase (acid maltase)
Symptoms =Cardiomyopathy, hypotonia, exercise intolerance, and systemic findings lead to early death. Enlarge tounge
Physical exam will give hypotonia in all 4 limbs and hepatomegaly. Muscle biopsy would show PAS positive glycogen-like inclusion in lysosomes. No hypoglycemia.

11. Thank
You