Metabolic pathways of glycogen metabolism and glycolysis

The figure shows the sites of enzymatic defects resulting in clinical glycogenoses. The glycogen storage disease types are as follows:

• Type 0: Glycogen synthase deficiency
• Type Ia: Glucose-6-phosphatase (G6Pase) deficiency or von Gierke disease
• Type II: Acid maltase deficiency or Pompe disease
• Type III: Glycogen debrancher deficiency
• Type IV: Glycogen branching deficiency or Andersen disease
• Type V: Muscle phosphorylase deficiency or McArdle disease
• Type VI: Liver phosphorylase deficiency or Hers disease
• Type VII: Phosphofructokinase (PFK) deficiency or Tarui disease
• Type IX: Phosphorylase b kinase (PBK) deficiency
• Type X: Phosphoglycerate mutase (PGAM2) deficiency
• Type XI: Lactate dehydrogenase (LDH) deficiency
• Type XII: Aldolase A deficiency
• Type XIII: Beta-enolase deficiency
• Type XIV: Phosphoglucomutase-1 (PGM1) deficiency

Other deficiency syndromes, enzymes, and intermediates include the following:

• Fructose-1,6-bisphosphatase (F-1,6-BP) deficiency
• Glucokinase (GK)
• Glucose transporter 2 (GLUT2) deficiency or Fanconi-Bickel syndrome
• Phosphoglycerate kinase (PGK) deficiency
• Phosphoenolpyruvate carboxykinase (PEPCK) deficiency
• Phosphorylase limit dextrin (PLD)
• Pyruvate carboxylase (PC) deficiency
• Pyruvate dehydrogenase (PDH)
• Pyruvate kinase (PK) deficiency
• Uridine diphosphoglucose (UDPG)
• Uridine diphosphoglucose pyrophosphorylase (UDPG-P)