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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.
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.
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 ...
The 1990s also saw the development of remotely operated robotic surgery systems, which allowed doctors to operate on patients from a distance. One such design was the Medical Forward Area Surgical ...
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.
Morning headaches. Insomnia. Anxiety. Depression. It’s difficult to notice the symptoms of sleep apnea at night. If you sleep with a partner, ask them to look out for signs of sleep apnea, like ...
Enzyme replacement therapy. Other names. ERT. [edit on Wikidata] Enzyme replacement therapy (ERT) is a medical treatment which replaces an enzyme that is deficient or absent in the body. [1] Usually, this is done by giving the patient an intravenous (IV) infusion of a solution containing the enzyme. [1]
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