ICD10 code of Glycogen Storage Disease and ICD9 code

The primary ICD-10 code for Glycogen Storage Disease is E74.0, while the corresponding ICD-9 code is 271.0. Because Glycogen Storage Disease is a group of over 15 distinct metabolic disorders, these codes serve as umbrella classifications for various sub-types, such as Von Gierke disease or Pompe disease.

What exactly is Glycogen Storage Disease?

Glycogen Storage Disease (GSD) refers to a group of rare metabolic disorders caused by genetic defects that affect the body's ability to create or break down glycogen, a form of sugar stored in the liver and muscles. Because the body cannot properly manage these energy stores, individuals with Glycogen Storage Disease may experience severe hypoglycemia, muscle weakness, or organ enlargement depending on the specific enzyme deficiency involved. With 379 members on DiseaseMaps.org, our community highlights the diverse ways this condition manifests, ranging from infantile-onset forms to milder adult-onset presentations.

How are the ICD codes for Glycogen Storage Disease applied?

In clinical practice, ICD-10 code E74.0 is the foundational category for Glycogen Storage Disease. However, because the clinical needs vary drastically between types, physicians often utilize more specific sub-codes to ensure accurate medical billing and treatment tracking. For example, GSD Type I (Von Gierke disease) is specifically mapped to E74.01, whereas GSD Type II (Pompe disease) is categorized under E74.02. Understanding these codes is essential for patients navigating insurance coverage and accessing specialized metabolic care.

Is Glycogen Storage Disease hereditary?

Yes, Glycogen Storage Disease is a genetic condition. Most forms of Glycogen Storage Disease are inherited in an autosomal recessive pattern, meaning an individual must inherit two copies of the mutated gene—one from each parent—to manifest the disease. Genetic counseling is a critical component of care for families impacted by this condition, as it provides clarity on recurrence risks and family planning.

What are the primary clinical classifications of this condition?

While there are many subtypes, medical professionals generally categorize Glycogen Storage Disease based on the tissue primarily affected and the specific enzyme that is missing. The following list outlines some of the most common clinical classifications:

• Type I (Von Gierke disease): Primarily affects the liver and kidneys, often leading to severe fasting hypoglycemia.


• Type II (Pompe disease): A multisystem disorder that primarily impacts the heart and skeletal muscles.


• Type III (Cori disease): Impacts both the liver and muscle tissue, often causing growth delays in children.


• Type V (McArdle disease): Specifically affects muscle tissue, causing exercise intolerance and cramping.

Next steps

• Consult with a metabolic specialist or a clinical geneticist to confirm your specific subtype and receive a tailored management plan.


• Connect with the 379 other members on DiseaseMaps.org to share experiences and learn about community-sourced management strategies.


• Keep an updated medical file that includes your specific GSD subtype and current ICD-10 coding for emergency reference.


• Visit the Association for Glycogen Storage Disease (AGSD) to access resources on clinical trials and dietary management protocols.

Medical disclaimer: This content is for educational purposes only and does not constitute professional medical advice, diagnosis, or treatment; always seek the advice of your physician or other qualified health provider with any questions regarding a medical condition.

References

• NIH Genetic and Rare Diseases Information Center (GARD): Glycogen Storage Disease.


• Orphanet: Rare Disease Database for Glycogen Storage Disease.


• OMIM (Online Mendelian Inheritance in Man): Comprehensive genetic catalog of GSD subtypes.


• Association for Glycogen Storage Disease (AGSD): Patient support and clinical resources.