von Gierke disease
ICD-10 E74.01 is a billable code used to indicate a diagnosis of von gierke disease.
Von Gierke disease, also known as Glycogen Storage Disease Type I, is a rare genetic disorder caused by a deficiency of the enzyme glucose-6-phosphatase. This enzyme is crucial for the conversion of glycogen to glucose, leading to an accumulation of glycogen in the liver and kidneys. Patients typically present in infancy with symptoms such as hypoglycemia, lactic acidosis, hyperuricemia, and hyperlipidemia. The disease can result in hepatomegaly, growth retardation, and delayed puberty due to the inability to maintain normal blood glucose levels during fasting. Long-term complications may include renal disease and increased risk of hepatic adenomas. Diagnosis is confirmed through enzyme assays, genetic testing, and liver biopsy. Management focuses on maintaining normal blood glucose levels through frequent feeding, cornstarch supplementation, and in some cases, liver transplantation. Early diagnosis and intervention are critical to prevent severe metabolic complications and improve quality of life.
Detailed growth and developmental assessments, dietary management plans, and metabolic monitoring.
Infants presenting with hypoglycemia, failure to thrive, and hepatomegaly.
Close monitoring of metabolic parameters and growth patterns is essential for accurate coding.
Genetic testing results, family history, and detailed metabolic assessments.
Patients undergoing genetic counseling and testing for familial patterns of glycogen storage diseases.
Documentation must clearly indicate the genetic basis of the disorder for accurate coding.
Used to monitor blood glucose levels in patients with von Gierke disease.
Document the reason for testing and results.
Pediatric specialists may require more frequent monitoring.
Common symptoms include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and delayed puberty.
Diagnosis is typically made through enzyme assays, genetic testing, and clinical evaluation of symptoms.
Management includes dietary modifications to prevent hypoglycemia, frequent feeding, cornstarch supplementation, and monitoring of metabolic parameters.
