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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 ...
Having an autosomal recessive inheritance pattern, males and females are equally likely to be affected by Andersen's disease. Classic Andersen's disease typically becomes apparent during the first few months after the patient is born. Approximately 1 in 20,000 to 25,000 newborns have a glycogen storage disease. [4]
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.
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 ...
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 ...
Testosterone is the primary male sex hormone and androgen in males. [ 3 ] In humans, testosterone plays a key role in the development of male reproductive tissues such as testicles and prostate, as well as promoting secondary sexual characteristics such as increased muscle and bone mass, and the growth of body hair.