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A glycogen storage disease(GSD, also glycogenosisand dextrinosis) is a metabolic disordercaused by a deficiency of an enzymeor transport proteinaffecting glycogen synthesis, glycogen breakdown, or glucose breakdown, typically in musclesand/or livercells. [1] GSD has two classes of cause: genetic and environmental.
Clinical manifestations of glycogen storage disease type III are divided into four classes: [3] GSD IIIa, is the most common, (along with GSD IIIb) and which clinically includes muscle and liver involvement; GSD IIIb, which clinically has liver involvement but no muscle involvement; GSD IIIc which clinically affects liver and muscle.
Glycogen storage disease type I (GSD I) is an inherited disease that prevents the liver from properly breaking down stored glycogen, which is necessary to maintain adequate blood sugar levels. GSD I is divided into two main types, GSD Ia and GSD Ib, which differ in cause, presentation, and treatment. There are also possibly rarer subtypes, the ...
Glycogen storage disease type V (GSD5, GSD-V), [ 1 ] also known as McArdle's disease, [ 2 ] is a metabolic disorder, one of the metabolic myopathies, more specifically a muscle glycogen storage disease, caused by a deficiency of myophosphorylase. [ 3 ][ 4 ] Its incidence is reported as one in 100,000, roughly the same as glycogen storage ...
Glycogen storage disease type II has an autosomal recessive pattern of inheritance. Pompe disease has an autosomal recessive inheritance pattern. This means the defective gene is located on an autosome , and two faulty copies of the gene—one from each parent—are required to be born with the disorder.
The glycogen debranching enzyme, in humans, is the protein encoded by the gene AGL. [5] This enzyme is essential for the breakdown of glycogen, which serves as a store of glucose in the body. It has separate glucosyltransferase and glucosidase activities. [6][7] Together with phosphorylases, the enzyme mobilize glucose reserves from glycogen ...
Glycogen. Specialty. Endocrinology. Glycogen storage disease type VI (GSD VI) is a type of glycogen storage disease caused by a deficiency in liver glycogen phosphorylase or other components of the associated phosphorylase cascade system. [ 2 ] It is also known as "Hers' disease", after Henri G. Hers, who characterized it in 1959. [ 3 ]
The form in horses is known as glycogen branching enzyme deficiency.It has been reported in American Quarter Horses and related breeds.. The disease has been reported in the Norwegian Forest Cat, where it causes skeletal muscle, heart, and CNS degeneration in animals greater than five months old.