ICD-11 classes
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C51 — Inborn errors of carbohydrate metabolism
5C51.3 — Glycogen storage disease

ICD-11 5C51.3 — Glycogen storage disease

The term Glycogen storage disease characterises a group of heterogeneous diseases resulting from defects in the process of glycogen synthesis or breakdown within muscles, liver, and other cell types.

It includes 13 items.

  • Glycogen storage disease due to LAMP-2 deficiency
  • Glycogen storage disease due to glycogen debranching enzyme deficiency
  • Glycogen storage disease due to muscle glycogen phosphorylase deficiency
  • Glycogen storage disease due to liver glycogen phosphorylase deficiency
  • Glycogen storage disease due to GLUT2 deficiency
  • Glycogen storage disease due to aldolase A deficiency
  • Glycogen storage disease due to muscle beta-enolase deficiency
  • Glycogen storage disease due to phosphoglucomutase deficiency
  • Glycogen storage disease due to glycogenin deficiency
  • Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
  • Glycogen storage disease due to lactate dehydrogenase deficiency
  • Glycogen storage disease due to muscle pyruvate kinase deficiency
  • Dilated cardiomyopathy due to glycogen branching enzyme deficiency

The diagnosis excludes nothing.

It has no clarifying diagnoses.

The diagnosis is coded elsewhere:

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