Master Of Medicine

Liver Glycogenoses

Disorders with hepatomegaly and hypoglycemia

1. Type I-Von Gierke -Glucose 6 phosphatase
2. Type III-Cori/Forbe limit dextrinosis- Debranching enzyme deficiency
3. Type VI-Her’s Liver phosphorylase
4. Type IX-Phosphorylase Kinase deficiency
5. Type XI-Fancon/Bickel Glut 2 deficiency

With Liver cirrhosis

Type IV-Anderson’s -Branching enzyme deficiency

Muscle Glycogenoses

With muscle energy impairment

1. Type V- Mc Ardle – muscle phosphorylase
2. Type VII-Tarui-Phosphofructokinase deficiency

With progressive skeletal muscle myopathy/cardiomyopathy

Type II-Pompe’s Lysosomal acid Alpha glucosidase deficiency