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glycogen storage disease (glycogenosis)

Clinical manifestations: - cramping, stiffness, & pain shortly after exertion [2]

Specific

glycogen storage disease type 0 (muscle, liver types) glycogen storage disease type-I (von Gierke type glycogen storage disease) glycogen storage disease type-II (Pompe type glycogen storage disease, infantile acid maltase deficiency) glycogen storage disease type-IIB (Danon disease, X-linked vacuolar cardiomyopathy & myopathy) glycogen storage disease type-III (Cori-Forbes type glycogen storage disease) glycogen storage disease type-IV (Anderson type glycogen storage disease) glycogen storage disease type-IX glycogen storage disease type-V (McArdle type glycogen storage disease) glycogen storage disease type-VI (Hers type glycogen storage disease) glycogen storage disease type-VII (Tarui type glycogen storage disease) glycogen storage disease type-VIII glycogen storage disease type-X glycogen storage disease type-XIII (muscle-specific enolase-beta deficiency) glycogen storage disease type-XV phosphorylase kinase deficiency of heart; glycogen storage disease of heart lethal congenital; congenital nonlysosomal cardiac glycogenosis

General

carbohydrate inborn error of metabolism metabolic myopathy

References

  1. Clinical Diagnosis & Management by Laboratory Methods, J.B. Henry (ed), W.B. Saunders Co., Philadelphia, PA. 1991, pg 185
  2. Medical Knowledge Self Assessment Program (MKSAP) 15, American College of Physicians, Philadelphia 2009