Ad
related to: glycogen storage diseases gsd symptoms
Search results
Results from the WOW.Com Content Network
Glycogen storage diseases that involve skeletal muscle typically have exercise-induced symptoms, such as premature muscle fatigue, rather than fixed weakness symptoms. [46] Differential diagnoses for glycogen storage diseases that involve fixed muscle weakness, particularly of the proximal muscles, would be an inflammatory myopathy or a limb ...
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 similar problems.
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]
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 disease type ...
The signs and symptoms in glycogen storage disease type IX include: [1] Enlarged liver; Slowed growth; Motor development delay (mild) Low blood sugar accompanied by ketosis; Lack of muscle tone; Most of these signs and symptoms diminish as adulthood sets in. [1]
GSD type II (GSD 2a, Pompe's disease, acid maltase deficiency, deficiency of lysosomal alpha-glucosidase, cardiomegalia glycogenica) Danon disease (GSD 2b, Danon disease, lysosomal glycogen storage disease without acid maltase deficiency) Symptoms of both GSD types IIa and IIb are very similar due to a defect in lysosomes.
Glycogen storage disease type I has an autosomal recessive pattern of inheritance. GSD I is inherited in an autosomal recessive manner. People with one copy of the faulty gene are carriers of the disease and have no symptoms. As with other autosomal recessive diseases, each child born to two carriers of the disease has a 25% chance of ...
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.
Ad
related to: glycogen storage diseases gsd symptoms