liver phosphorylase deficiency

liver phosphorylase deficiency
liv·er phos·phor·y·lase de·fi·cien·cy (livґər fos-forґə-lās) glycogen storage disease, type VI.

Medical dictionary. 2011.

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  • deficiency — An insufficient quantity of some substance (as in dietary d. or hemoglobin d. in marrow aplasia); organization (as in mental d.); activity (as in enzyme d. or reduced oxygen carrying capacity of the blood), etc., of which the amount present is of …   Medical dictionary

  • phosphorylase kinase — phos·phor·y·lase ki·nase (fos forґə lās kiґnās) [EC 2.7.11.19] an enzyme of the transferase class that catalyzes the phosphorylation of (inactive) glycogen phosphorylase b to form (active) glycogen phosphorylase a, a step in the… …   Medical dictionary

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  • glycogen phosphorylase — gly·co·gen phos·phor·y·lase (gliґko jən fos forґə lās) [EC 2.4.1.1] an enzyme of the transferase class that catalyzes the phosphorolysis of a terminal α 1,4 glycosidic bond at the non reducing end of a glycogen molecule,… …   Medical dictionary

  • PHKA2 — Phosphorylase kinase, alpha 2 (liver), also known as PHKA2, is a human gene.cite web | title = Entrez Gene: PHKA2 phosphorylase kinase, alpha 2 (liver)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=5256|… …   Wikipedia

  • Inborn error of metabolism — Classification and external resources ICD 10 E70 E90 ICD 9 …   Wikipedia

  • НЕДОСТАТОЧНОСТЬ ФЕРМЕНТОВ — мед. Синдромы врождённых нарушений обмена веществ встречаются редко, но оказывают значительное влияние на физическое, интеллектуальное, психическое развитие и качество жизни (например, фенилкетонурия, гомоцистинурия, гликогенозы, синдромы ломкой… …   Справочник по болезням

  • glycogen storage disease — Pathol. any of several inherited disorders of glycogen metabolism that result in excess accumulation of glycogen in various organs of the body. Also called glycogenosis /gluy koh jeuh noh sis/. * * * or glycogenosis Any of numerous types of… …   Universalium

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