Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja 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 Klasyfikacja Disease Synonimy 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 Kod ORPHA 57 Kod OMIM 611881 Kod ICD10 E74.0 Kod ICD11 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