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A glycogen storage disease (GSD, also glycogenosis and dextrinosis) is a metabolic disorder caused by a deficiency of an enzyme or transport protein affecting glycogen synthesis, glycogen breakdown, or glucose breakdown, typically in muscles and/or liver cells. [1] GSD has two classes of cause: genetic and environmental.
Cell growth refers to an increase in the total mass of a cell, including both cytoplasmic, nuclear and organelle volume. [1] Cell growth occurs when the overall rate of cellular biosynthesis (production of biomolecules or anabolism) is greater than the overall rate of cellular degradation (the destruction of biomolecules via the proteasome, lysosome or autophagy, or catabolism).
Inborn errors of metabolism are often referred to as congenital metabolic diseases or inherited metabolic disorders. [2] Another term used to describe these disorders is "enzymopathies". This term was created following the study of biodynamic enzymology , a science based on the study of the enzymes and their products.
To access the energy stored as glycogen, cells use the metabolic pathway glycogenolysis (glycogen breakdown); this produces the simple sugar glucose-6-phosphate (G-6-P), from which cells can extract energy or build other substances (e.g. riboses). G-6-P (which is also produced from glucose) acts as an input substance for: Glycolysis (see above)
Download as PDF; Printable version; ... Pages in category "Growth disorders" ... Stunted growth; T. Turner syndrome
Symptomatic features of paraneoplastic syndrome cultivate in four ways: endocrine, neurological, mucocutaneous, and hematological.The most common presentation is a fever (release of endogenous pyrogens often related to lymphokines or tissue pyrogens), but the overall picture will often include several clinical cases observed which may specifically simulate more common benign conditions.
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As part of a group of disorders known as leukodystrophies, Krabbe disease results from the imperfect growth and development of myelin. [ citation needed ] Galactosylceramidase deficiency also results in a buildup of a glycosphingolipid called psychosine , which is toxic to oligodendrocytes , a type of non-neuronal cell found in the nervous ...