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Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency

Disease definition

A rare glycogen storage disease characterized by easy fatigue, exertional myalgia, painful muscle stiffness, and cramps, with or without myoglobinuria. Pustular psoriasis-like eruptions with antecedent annular scaly plaques may be observed in some patients. In affected women, pregnancy may be complicated by abdominal pain and dystocia.


Classification level: Subtype of disorder
  • Synonym(s):
    • GSD due to lactate dehydrogenase M-subunit deficiency
    • Glycogenosis due to lactate dehydrogenase M-subunit deficiency
    • LDH-M subunit deficiency
    • Lactate dehydrogenase A deficiency
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E74.0
  • OMIM: 612933
  • UMLS: C2931743
  • MeSH: -
  • GARD: 3160
  • MedDRA: -
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