Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is a group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency (see these terms). Disease data Classification Clinical group Synonyms GSD due to phosphorylase kinase deficiency Choroba spichrzania glikogenu spowodowana niedoborem PhK Choroba spichrzania glikogenu typu 9 Choroba spichrzania glikogenu typu IX Glikogenoza spowodowana niedoborem kinazy fosforylazy Glikogenoza spowodowana niedoborem PhK Glikogenoza typu 9 GSD spowodowana niedoborem kinazy fosforylazy GSD typu 9 GSD typu IX GSD type 9 GSD type IX Glycogen storage disease due to PhK deficiency Glycogen storage disease type 9 Glycogen storage disease type IX Glycogenosis due to phosphorylase kinase deficiency Glycogenosis type 9 Glycogenosis type IX Gycogenosis due to PhK deficiency ORPHA code 370 OMIM code - 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