2025 ICD-10-CM code E74.01
Von Gierke disease (also known as Type I glycogen storage disease). It's a genetic disorder where the body can't break down glycogen, leading to its accumulation and low blood sugar.
Medical necessity for services related to Von Gierke disease stems from the need to manage the complex metabolic imbalances and prevent severe complications. This includes regular monitoring of blood glucose, kidney function, and other metabolic parameters, dietary management, and medications to address hypoglycemia, lactic acidosis, hyperuricemia, and other related issues.
Diagnosis and management of Von Gierke disease typically involve specialists in genetics, endocrinology, and gastroenterology.The clinical responsibility includes evaluating symptoms, conducting laboratory tests (blood sugar, lipids, uric acid, lactate, enzyme activity, genetic testing), imaging studies (ultrasound, biopsies), and prescribing dietary management and medications to address hypoglycemia, kidney dysfunction, and other complications.
In simple words: Von Gierke disease, also called Type I glycogen storage disease, is a genetic condition where the body can't properly break down stored sugar (glycogen) into energy. This causes the sugar to build up in organs like the liver and kidneys, leading to problems like low blood sugar, frequent hunger, and slowed growth.
Von Gierke disease, or Type I glycogen storage disease (GSD I), is an inherited metabolic disorder characterized by the body's inability to break down glycogen into glucose. This results in an accumulation of glycogen in the liver, kidneys, and intestines, impairing their function.Symptoms typically appear in infancy and include low blood sugar (hypoglycemia), seizures, chronic hunger, fatigue, irritability, enlarged liver and kidneys, and growth failure.There are two subtypes: GSD Ia, caused by glucose-6-phosphatase deficiency, and GSD Ib, related to a defect in the glucose-6-phosphate transporter.GSD Ib may also present with neutropenia and recurrent infections, inflammatory bowel disease, and oral problems. The disease can lead to complications like gout, kidney dysfunction, osteoporosis, anemia, liver cancer, and pancreatitis.
Example 1: A 3-month-old infant presents with recurrent episodes of hypoglycemia, seizures, and an enlarged liver. Laboratory tests reveal elevated lactate and uric acid levels, leading to a diagnosis of Von Gierke disease., A young child displays growth retardation, a protruding abdomen due to an enlarged liver, and experiences frequent hunger and fatigue. Genetic testing confirms a diagnosis of GSD I., A patient with GSD Ib experiences recurrent bacterial infections, inflammatory bowel disease, and persistent oral ulcers, in addition to the typical symptoms of Von Gierke disease.
Documentation should include details of symptoms (hypoglycemia, seizures, hunger, fatigue, etc.), family history, physical exam findings (enlarged liver/kidneys), laboratory results (glucose, lactate, uric acid, lipids, enzyme assays, genetic tests), imaging studies (ultrasound, biopsies), and treatment plans (dietary modifications, medications).
- Specialties:Genetics, Endocrinology, Gastroenterology, Nephrology
- Place of Service:Inpatient Hospital, Outpatient Hospital, Physician's Office