Glycogen storage diseases and metabolic myopathy

What it is

Three GSDs are set side by side, and what separates them is whether the muscle is the primary site.

• GSD I, von Gierke, from glucose-6-phosphatase deficiency. The involvement is liver and kidney primarily, with no primary muscle symptoms.
• GSD V, McArdle, from muscle glycogen phosphorylase deficiency. This is primary muscle involvement, a metabolic myopathy.
• GSD VII, Tarui, from phosphofructokinase deficiency. This too is primary muscle involvement, a metabolic myopathy.