Pediatric glycogen storage disease type Ⅴ

Glycogen storage disease (GSD) is a class of disorders of glycogen metabolism caused by congenital enzyme defects, and is autosomal recessive. Lack of muscle phosphorylase (phosphorylase) deficiency leads to obstruction of glycogen breakdown in muscle cells and insufficient ATP production. The affected tissue is striated muscle. The main clinical feature is pain, cramps and weakness after severe muscle contraction. Also known as Mc Ardle syndrome, McArdle-Schmid-Pearson syndrome, Cori type Ⅴ glycogen deposition disease, glycogen metabolism disease muscle type, muscle phosphorylase deficiency and so on.

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