Glycogen storage disease, unspecified
ICD-10 E74.00 is a billable code used to indicate a diagnosis of glycogen storage disease, unspecified.
Glycogen storage diseases (GSDs) are a group of inherited metabolic disorders characterized by the abnormal storage and metabolism of glycogen due to enzyme deficiencies. These conditions result from genetic mutations affecting enzymes responsible for glycogen synthesis or breakdown, leading to excessive accumulation of glycogen in various tissues, particularly the liver and muscles. Symptoms can vary widely depending on the specific enzyme deficiency and the type of GSD, but common manifestations include hypoglycemia, hepatomegaly, muscle weakness, and growth retardation. The unspecified designation indicates that the specific type of glycogen storage disease has not been determined or documented. Diagnosis typically involves biochemical tests to assess enzyme activity, genetic testing, and imaging studies to evaluate organ involvement. Management strategies may include dietary modifications, enzyme replacement therapy, and supportive care to address symptoms and prevent complications. Accurate coding is essential for appropriate treatment and reimbursement, as well as for tracking the prevalence and outcomes of these rare metabolic disorders.
Detailed family history, growth parameters, and developmental milestones.
Diagnosis of GSD in infants with hypoglycemia and hepatomegaly.
Consideration of dietary management and monitoring of growth and development.
Genetic testing results and family pedigree analysis.
Evaluation of patients with suspected hereditary metabolic disorders.
Importance of genetic counseling for affected families.
Used when genetic testing is performed to confirm a diagnosis of glycogen storage disease.
Documentation of clinical indications for genetic testing and results.
Genetic counseling may be necessary for families.
E74.00 is used when the specific type of glycogen storage disease is not documented. It is important for capturing cases where the diagnosis is suspected but not confirmed, allowing for appropriate management and tracking.
