Glycogen Storage Disease V (GSD5)

Alias:

Glycogen Storage Disease Type V

Myophosphorylase Deficiency

Mcardle Disease

Glycogenosis Type V

Muscle Glycogen Phosphorylase Deficiency

Glycogen Storage Disease, Type V

Glycogen Storage Disease Type 5

Pygm Deficiency

Gsd Type V

Gsd V

Glycogen Storage Disease Due to Muscle Glycogen Phosphorylase Deficiency

Glycogenosis Due to Muscle Glycogen Phosphorylase Deficiency

Gsd Due to Muscle Glycogen Phosphorylase Deficiency

Glycogen Storage Disease 5

Glycogenosis Type 5

Mcardle's Disease

Gsd Type 5

Pygmy

Gsd5

Mcardle Type Glycogen Storage Disease

Storage Disease, Glycogen, Type V

Muscle Phosphorylase Deficiency

Mcardle Syndrome

Mcardles Disease

Pygmy, African

Glycogenosis 5

Gsd-V

Gsdv

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Glycogen Storage Disease V, also known as glycogen storage disease type v, is related to myoglobinuria, recurrent and myoglobinuria. An important gene associated with Glycogen Storage Disease V is PYGM (Glycogen Phosphorylase, Muscle Associated), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. The drugs Valproic acid and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include kidney and skeletal muscle, and related phenotypes are increased muscle glycogen content and elevated circulating creatine kinase concentration

Related ID：

MALACARDS：GLY004

OMIM：232600

MESH：D006012