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  • Glycogen storage disease is the result of defects in the processing of glycogen synthesis

  • or breakdown within muscles, liver, and other cell types. GSD has two classes of cause:

  • genetic and acquired. Genetic GSD is caused by any inborn error of metabolism involved

  • in these processes. In livestock, acquired GSD is caused by intoxication with the alkaloid

  • castanospermine. Overall, according to a study in British Columbia,

  • approximately 2.3 children per 100 000 births have some form of glycogen storage disease.

  • In the United States, they are estimated to occur in 1 per 20,000-25,000 births. A Dutch

  • study estimated it to be 1 in 40,000. Types

  • There are eleven distinct diseases that are commonly considered to be glycogen storage

  • diseases. GSD type VIII: In the past, considered a distinct

  • condition. Now classified with VI. Has been described as X-linked recessive.

  • GSD type X: In the past, considered a distinct condition. Now classified with VI.

  • References

  • External links Asociación Española de Enfermos de Glucogenosis

Glycogen storage disease is the result of defects in the processing of glycogen synthesis

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グリコーゲン貯蔵病 (Glycogen storage disease)

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    Jane に公開 2021 年 01 月 14 日
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