Glycogen Storage Diseases


  1. von-Gierke: G6Pase deficiency: severe fasting hypoglycemia, gout at puberty
  2. Pompe: alpha-glucosidase (acid maltase, lysosomal enzyme) deficiency: hypotonia, then heart failure
  3. Cori: glycogen debranching deficiency: presents like type 1
  4. Anderson: glycogen-branching enzyme deficiency: progressive liver cirrhosis
  5. McArdle: muscle phosphorylase deficiency: exercise intolerance

GSD Type 0

GSD Type 1: Von Gierke

GSD Type 2: Pompe

GSD Type 3: Cori's Disease

GSD Type 4: Anderson Disease

GSD Type 5: McArdle's Disease


Glycogen-storage disease type VI (GSD VI) represents a heterogeneous group of hepatic glycogenoses with mild clinical manifestations and benign course. Patients typically exhibit prominent hepatomegaly, growth retardation, and variable but mild episodes of fasting hypoglycemia and hyperketosis during childhood. Hyperlacticacidemia and hyperuricemia characteristically are absent. In addition, patients may demonstrate elevated serum transaminases, hyperlipidemia, hypotonia, and muscle weakness. These clinical features and biochemical abnormalities generally resolve by puberty. Rare variants may have associated proximal renal tubule acidosis, myopathy, or fatal cardiomyopathy.

In general, GSD VI is caused by defects in the hepatic glycogen phosphorylase-activating system. The classic form of GSD VI results from a primary deficiency of liver phosphorylase. Other defects of the phosphorylase cascade system now included in this form of GSD are phosphorylase b kinase deficiency (formerly GSD IX, GSD VIII by McKusick) and adenosine 3',5'-cyclic monophosphate (cAMP)-dependent protein kinase deficiency (formerly GSD X).

GSD 7: phosphofructokinase (PFK) deficiency