Cori disease
ICD-10 E74.03 is a billable code used to indicate a diagnosis of cori disease.
Cori disease, also known as Glycogen Storage Disease Type III, is a rare inherited metabolic disorder caused by a deficiency of the enzyme debranching enzyme (AGL). This enzyme is crucial for the proper metabolism of glycogen, which is the stored form of glucose in the body. In individuals with Cori disease, the inability to properly break down glycogen leads to the accumulation of abnormal glycogen structures, resulting in various clinical manifestations. Symptoms typically include muscle weakness, exercise intolerance, hypoglycemia, and hepatomegaly. The disease can present in infancy or later in childhood, and its severity can vary widely among affected individuals. Diagnosis is often confirmed through enzyme assays, genetic testing, and liver biopsy. Management focuses on dietary modifications, including a high-protein diet and frequent meals to maintain blood glucose levels. Regular monitoring and supportive care are essential to manage symptoms and prevent complications associated with the disease.
Detailed family history, symptom onset, and growth parameters.
Diagnosis in infants presenting with hypoglycemia and hepatomegaly.
Consideration of developmental milestones and nutritional needs.
Genetic testing results and family pedigree.
Counseling families with a history of glycogen storage diseases.
Importance of documenting genetic counseling sessions.
Used when confirming diagnosis through genetic testing.
Document the reason for testing and results.
Genetic counseling may be necessary.
Cori disease is primarily caused by a deficiency of the debranching enzyme, which is essential for the proper metabolism of glycogen.
