Other glycogen storage disease
ICD-10 E74.09 is a billable code used to indicate a diagnosis of other glycogen storage disease.
Glycogen storage diseases (GSDs) are a group of inherited metabolic disorders characterized by the abnormal storage and metabolism of glycogen due to enzyme deficiencies. E74.09 specifically refers to other forms of glycogen storage diseases that do not fall under the more commonly recognized types, such as Pompe disease or von Gierke disease. These conditions can lead to a variety of symptoms, including muscle weakness, cardiomyopathy, hypoglycemia, and hepatomegaly, depending on the specific enzyme deficiency involved. The pathophysiology of GSDs involves the accumulation of glycogen in tissues, which can disrupt normal cellular function and lead to organ damage. Diagnosis typically involves biochemical tests to identify enzyme deficiencies, genetic testing, and sometimes muscle biopsy. Management may include dietary modifications, enzyme replacement therapy, and supportive care to address symptoms and prevent complications. Accurate coding is essential for proper reimbursement and to ensure that patients receive appropriate care.
Genetic test results, family history, and detailed clinical evaluations.
Patients presenting with unexplained muscle weakness or metabolic crises.
Ensure that genetic counseling notes are included to support the diagnosis.
Growth charts, developmental assessments, and dietary history.
Infants or children with hepatomegaly or hypoglycemic episodes.
Documenting the age of onset and progression of symptoms is crucial.
Used when genetic testing is performed to confirm a glycogen storage disease diagnosis.
Document the specific tests performed and the clinical rationale.
Genetic counseling notes should be included.
Common symptoms include muscle weakness, hypoglycemia, hepatomegaly, and cardiomyopathy, which can vary based on the specific enzyme deficiency.
Diagnosis typically involves biochemical tests to identify enzyme deficiencies, genetic testing, and clinical evaluations.
