Search results
Results from the WOW.Com Content Network
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.
1 in 100,000 live births. 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.
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.
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 ...
Medical genetics. Glycogen storage disease type 0 is a disease characterized by a deficiency in the glycogen synthase enzyme (GSY). Although glycogen synthase deficiency does not result in storage of extra glycogen in the liver, it is often classified as a glycogen storage disease because it is another defect of glycogen storage and can cause ...
Get AOL Mail for FREE! Manage your email like never before with travel, photo & document views. Personalize your inbox with themes & tabs. You've Got Mail!
Presentation. [edit] GLUT1 deficiency is characterized by an array of signs and symptoms including mental and motor developmental delays, infantile seizuresrefractory to anticonvulsants, ataxia, dystonia, dysarthria, opsoclonus, spasticity, other paroxysmalneurologic phenomena and sometimes deceleration of head growth also known as microcephaly.
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 ] Andersen's disease affects 1 in 800,000 individuals worldwide, with 3% of all GSDs being type IV. [ 5 ]