Glycogen storage disease type V (redirect from Myophosphorylase deficiency)
specifically a muscle glycogen storage disease, caused by a deficiency of myophosphorylase. Its incidence is reported as one in 100,000, roughly the same as glycogen...
58 KB (6,602 words) - 00:05, 8 July 2024
Myophosphorylase or glycogen phosphorylase, muscle associated (PYGM) is the muscle isoform of the enzyme glycogen phosphorylase and is encoded by the PYGM...
10 KB (1,106 words) - 19:12, 21 December 2023
diphosphate (ADP), as well as allosterically activating enzymes such as myophosphorylase-b. AMP is also a component in the synthesis of RNA. AMP is present...
14 KB (1,255 words) - 07:33, 5 March 2024
different symptoms) Myophosphorylase-a activity impaired: Autosomal dominant mutation on PYGM gene. AMP-independent myophosphorylase activity impaired,...
68 KB (6,092 words) - 16:38, 9 September 2024
glucose-6-phosphate. Myophosphorylase-a is active, unless allosterically inactivated by elevated glucose within the cell. In this way, myophosphorylase-a is the more...
58 KB (2,792 words) - 22:37, 19 June 2024
metabolic myopathies, is caused by mutations of the gene encoding myophosphorylase. Cytochrome b mutations can frequently cause isolated exercise intolerance...
24 KB (2,538 words) - 04:21, 4 September 2024
will become discharged down to AMP. AMP will instantly up-regulate myophosphorylase, which will start liberating glucose from glycogen and make it available...
35 KB (4,691 words) - 23:47, 30 August 2024
myotubular Myopathy, X-linked, with excessive autophagy Myopathy Myophosphorylase deficiency Myopia Myopia, infantile severe Myopia, severe Myorhythmia...
28 KB (2,469 words) - 04:35, 13 June 2024
phosphoglucomutase deficiency (GSD-XIV), deficiency of functioning myophosphorylase-a (autosomal dominant PYGM), phosphorylase-b kinase deficiency (GSD-IXd)...
51 KB (5,274 words) - 23:46, 30 August 2024
the enzyme myophosphorylase (see Glycogen phosphorylase ยง Regulation), so the initial buildup of AMP triggers the enzyme myophosphorylase to release muscle...
23 KB (2,658 words) - 11:45, 3 September 2024