Glycogen storage diseases

Glycogen storage diseases a group of diseases characterized by the accumulation of glycogen.

General microscopic

Features:

• +/-Vacuolated muscle fibres. (???)

Images:

• Glycogen storage disease (wustl.edu).
• Glycogen storage disease (brown.edu).

Electron microscopy

• Electron dense deposits.

Specific diseases

Pompe disease

• AKA glycogenosis II, AKA acid maltase deficiency, AKA alpha-1,4-glucosidase deficiency.

General

Deficiency of alpha-1,4-glucosidase; it degrades glycogen to glucose in lysosomes.

Clinical:

• Floppy baby.
• Big heart.
  • Often early death from cardiac failure.

Cori disease

• AKA glycogen storage disease type III.

General

• Hepatomegaly.

Microscopic

Features:

• Hypertrophic hepatocytes with pale cytoplasm.
  • Classically: PAS +ve, PAS-D -ve.
• Portal fibrosis.

Image:

• Glycogen storage disease consistent with Cori disease - high mag. (WC).

Stains

• PAS +ve.
• PAS-D -ve.

See also

• Lysosomal storage diseases.