Glycogenosis

This code represents a group of rare, inherited metabolic disorders characterized by defects in the synthesis or breakdown of glycogen, primarily affecting the liver and muscles. These defects lead to abnormal accumulation or depletion of glycogen, resulting in various clinical manifestations depending on the specific enzyme deficiency.

Use this code when documentation clearly indicates a diagnosis of glycogen storage disease (GSD) or glycogenosis. This includes specific types such as Von Gierke's disease (Type I), Pompe's disease (Type II), Cori's disease (Type III), or McArdle's disease (Type V), among others, when a more specific ICD-9-CM code is not available. Supporting documentation should include genetic testing results, enzyme assays, liver or muscle biopsies, and clinical findings consistent with a GSD.

• Always seek to code to the highest level of specificity. If the specific type of glycogenosis is documented and a more granular ICD-9-CM code exists (e.g., for Type I, II, or III), use that instead.
• Review documentation for associated complications, such as hypoglycemia, hepatomegaly, cardiomyopathy, or muscle weakness, and code them separately.
• This code is for the underlying genetic disorder; do not confuse it with acquired conditions affecting glycogen metabolism that are not genetic in origin.