Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b (see these terms), and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver. Disease data Classification Disease Synonyms G6P deficiency Choroba spichrzania glikogenu spowodowana niedoborem G6P Choroba spichrzania glikogenu typu 1 Choroba Von Gierke Glikogenoza typu 1 Glikogenoza wątrobowo-nerkowa GSD spowodowane niedoborem G6P GSD typu 1 Niedobór G6P GSD due to G6P deficiency GSD type 1 GSD type I Glycogen storage disease due to G6P deficiency Glycogen storage disease type 1 Glycogen storage disease type I Glycogenosis type 1 Glycogenosis type I Hepatorenal glycogenosis Von Gierke disease ORPHA code 364 OMIM code 232240 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