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Glycogen storage disease due to lactate dehydrogenase deficiency

Disease definition

A rare genetic glycogen storage disease characterized by either lactate dehydrogenase (LDH) M- or H-subunit deficiency. Main features of LDH M-subunit deficiency are exertional fatigue and muscle pain potentially accompanied by myoglobinuria. Some patients may develop pustular psoriasis-like skin lesions. Complications of pregnancy, such as frequent abdominal pains and increased uterine tone with a risk of dystocia have also been described. LDH H-subunit deficiency manifests with low serum LDH activity of unclear clinical relevance.

ORPHA:2364

Classification level: Disorder
  • Synonym(s):
    • GSD due to lactate dehydrogenase deficiency
    • Glycogenosis due to lactate dehydrogenase deficiency
    • LDH deficiency
  • Prevalence: -
  • Inheritance: -
  • Age of onset: Childhood
  • ICD-10: E74.4
  • OMIM: 612933  614128
  • UMLS: -
  • MeSH: -
  • GARD: 3159
  • MedDRA: -

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