von Gierke disease

This code identifies von Gierke disease, also known as Glycogen Storage Disease Type I (GSD I). It is an inherited metabolic disorder characterized by the body's inability to break down glycogen into glucose, leading to glycogen accumulation primarily in the liver and kidneys. This metabolic defect results in severe hypoglycemia, hepatomegaly, and lactic acidosis.

Use this code for patients diagnosed with von Gierke disease based on clinical presentation, biochemical testing (e.g., elevated lactate, triglycerides, uric acid, and abnormal glucose response), and genetic confirmation. Documentation should clearly state the diagnosis of von Gierke disease or Glycogen Storage Disease Type I.

• Ensure documentation specifies "von Gierke disease" or "Glycogen Storage Disease Type I" to support this specific code.
• Do not confuse with other types of glycogen storage diseases; each has a distinct code.
• Code any associated manifestations, such as hypoglycemia (E16.2), hepatomegaly (R16.0), or lactic acidosis (E87.2), as secondary diagnoses.