Glycogen storage diseases are a group of metabolic disorders caused by enzyme deficiencies that affect glycogen synthesis or breakdown in the liver and/or muscles. The main symptoms include low blood sugar, liver enlargement, slow growth, muscle weakness, and breakdown of muscle fibers. Diagnosis involves biopsy, blood and urine tests, and MRI scans. There are several types of glycogen storage diseases categorized by the specific enzyme deficiency and accumulated metabolite. Treatment focuses on maintaining blood glucose levels through nasogastric infusion, medications to manage symptoms, dietary changes, and in severe cases, organ transplantation.

1. GLYCOGEN STORAGE
DISEASES
Presented by:
Mahewash Sana A. Pathan
M. Pharm (Pharmaceutics)

2. Glycogen storage diseases (GSD):
• A glycogen storage disease (GSD, also glycogenosis
and dextrinosis) is a metabolic disorder caused by
an enzyme deficiency affecting glycogen synthesis,
glycogen breakdown, or glucose breakdown,
typically in muscles and/or liver cells.
• GSD has two classes of cause: genetic and acquired.

3. Symptoms of GSD:
• Low blood sugar- Hypoglycemia
• Hepatomegaly- enlargrment of liver
• Slow growth
• Muscle weakness
• Myoglobinurea- acute breakdown of muscles

4. Diagnosis of GSD:
• Biopsy
• Blood & urine test
• MRI scan

5. Types of GSD:
Type Name of
disease
Enzyme
deficience
Gene
involved
Accumulate
d metabolite
Organs
involved
I Von Gierke's
disease
Glucose -6-
phosphate
HGMD Glycogen Liver, kidney
II Pomp's
disease
Acid-alpha-
glycosidase/
Acid maltase
GAA Glycogen Heart &
skeletal
muscles
III Forbe's /
cori's
disease
Amyloglycos
idase/
debrancher
AGL Limit dextrin Heart &
skeletal
muscles
IV Anderson's
disease
Amylo-trans-
glycosidase/
brancher
GBE Amylopectin Liver
V McArdle's
disease
Muscle
phosphoryla
se
PYGM Glycogen Liver

6. VI Her's
disease
Liver
phosphor
ylase
PYGL Glycogen Liver
VII Taurii
disease
Phospho-
fructo
kinase
PFKM Glycogen Muscles
VIII Phosphor
ylase
kinase
Glycogen Liver

7. Treatment of GSD:
• Nasogastric infusion to maintain glucose level
• Allopurinol- decreases uric acid in blood
• Liver transplantation for type IV GSD
• High protein diet

8. THANK YOU