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Glycogen storage disease due to aldolase A deficiency

Disease definition

Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease (see this term) characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggered by fever) without hemolytic anemia has recently been reported.

ORPHA:57

Classification level: Disorder
  • Synonym(s):
    • GSD due to aldolase A deficiency
    • GSD type 12
    • GSD type XII
    • Glycogen storage disease type 12
    • Glycogen storage disease type XII
    • Glycogenosis due to aldolase A deficiency
    • Glycogenosis type 12
    • Glycogenosis type XII
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: E74.0
  • ICD-11: 5C51.3
  • OMIM: 611881
  • UMLS: C0272066
  • MeSH: -
  • GARD: 600
  • MedDRA: -

  A summary on this disease is available in Español (2015) Français (2015) Italiano (2015) Nederlands (2015) Deutsch (2002)

Detailed information

Genetic Testing

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.