Disorders of pyruvate metabolism and gluconeogenesis

This code identifies a group of rare genetic metabolic disorders affecting the body's ability to process pyruvate, a crucial molecule in energy production, and/or to synthesize glucose from non-carbohydrate sources (gluconeogenesis). These conditions can lead to a buildup of harmful substances and energy deficiencies, impacting various organ systems.

Assign this code for patients diagnosed with specific disorders such as pyruvate dehydrogenase deficiency, pyruvate carboxylase deficiency, or fructose-1,6-bisphosphatase deficiency. Documentation should clearly state the specific enzymatic defect or the clinical diagnosis of a disorder of pyruvate metabolism or gluconeogenesis.

• Always review documentation for the specific type of pyruvate metabolism or gluconeogenesis disorder to ensure accurate coding.
• Be mindful of the Excludes1 notes; do not code this alongside D55.- for disorders with anemia or G31.82 for Leigh's syndrome.
• Consider sequencing if other conditions are present; the underlying metabolic disorder is often the primary diagnosis.