Glycogen storage disease
ICD-10 E74.0 is a billable code used to indicate a diagnosis of 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. These conditions result from genetic mutations that affect the enzymes responsible for glycogen synthesis and breakdown. The accumulation of glycogen in various tissues, particularly the liver and muscles, leads to a range of clinical manifestations, including hypoglycemia, hepatomegaly, muscle weakness, and cardiomyopathy. The severity and specific symptoms of GSDs can vary widely depending on the type of enzyme deficiency involved. For instance, Type I GSD (Von Gierke disease) is caused by glucose-6-phosphatase deficiency, leading to severe hypoglycemia and lactic acidosis, while Type II (Pompe disease) is due to acid alpha-glucosidase deficiency, primarily affecting muscle function. Diagnosis typically involves biochemical tests, genetic testing, and sometimes muscle biopsy. Management strategies focus on dietary modifications, enzyme replacement therapy, and supportive care to mitigate symptoms and prevent complications.
Detailed family history, growth and development assessments, and metabolic screening results.
Diagnosis of GSD in infants presenting with hypoglycemia or hepatomegaly.
Consideration of dietary management and monitoring of growth parameters.
Comprehensive genetic testing reports and family pedigree charts.
Counseling families with a history of GSD and discussing implications for future pregnancies.
Emphasis on the importance of genetic counseling and testing for at-risk family members.
Used when confirming a diagnosis of GSD through genetic analysis.
Documentation of clinical indications for testing and results.
Genetic counseling may be necessary for families.
Common types include Type I (Von Gierke disease), Type II (Pompe disease), Type III (Cori disease), and Type IV (Andersen disease), each caused by different enzyme deficiencies.
