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last update : 15-05-2020
Symbol LDHAD
Location 11p15.1
Name lactate dehydrogenase-a deficiency
Other name(s)
  • glycogen storage disease XI
  • Corresponding gene LDHA
    Other symbol(s) GSD11
    Main clinical features
  • exertional myoglobinuria and easy fatigue, and characteristic erythematosquamous skin lesions, myoglobinuria, exertional and/or excessive fatigability
  • also characteristic nonpruritic erythematosquamous skin lesions on the extensor surfaces of the extremities
  • Genetic determination autosomal dominant
    Function/system disorder neuromuscular
    Type disease
    Gene product
    Name lactate dehydrogenase A