| phosphorylase b kinase deficiency glycogen storage disease |
A form of glycogen storage disease caused by an x-linked deficiency of the kinase that activates phosphorylase. Previously called type VIa, VIII, or IX.
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| phosphorylase |
1. any of a group of enzymes catalyzing phosphorolysis of glycosides, transferring the cleaved glycosyl group to inorganic phosphate. The term is usually qualified by adding the name of the substrate acted upon; when used alone it usually denotes glycogen phosphorylase (q.v.) in animals or starch phosphorylase in plants. 2. any of a group of transferases that catalyze the transfer of a phosphate group to an organic acceptor.
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| phosphorylase b |
phosphorylase kinase.
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| phosphorylase kinase |
[EC 2.7.1.38] 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 cascade of reactions regulating glycogenolysis. The enzyme is itself activated via phosphorylation by cyclic-AMP–dependent protein kinase, and one of its four subunits is identical to calmodulin. Deficiency of the enzyme in liver, an X-linked trait, causes phosphorylase b kinase deficiency.
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