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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 ...
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.
gsd iii is ar In regards to genetics glycogen storage disease type III is inherited in an autosomal recessive pattern (which means both parents need be a carrier), and occurs in about 1 of every 100,000 live births.
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 ...
Endocrinology. Glycogen storage disease type II(GSD-II), also called Pompe disease, and formerly known as GSD-IIa or Limb–girdle muscular dystrophy 2V, is an autosomal recessive metabolic disorder [ 1 ] which damages muscle and nerve cells throughout the body.
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. 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 ]
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 ...