Description of the disease * EnglishPolish Pobierz sekcję do PDF 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. Disease data Classification Disease Synonyms GSD due to aldolase A deficiency Choroba spichrzania glikogenu typu 12 Glikogenoza typu 12 Glikogenoza z powodu niedoboru aldolazy A GSD typu 12 GSD z powodu niedoboru aldolazy A 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 ORPHA code 57 OMIM code 611881 ICD10 code E74.0 ICD11 code 5C51.3 *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl