Carnitine deficiency due to inborn errors of metabolism

This code signifies a metabolic disorder characterized by insufficient carnitine levels within the body, specifically caused by inherited genetic defects affecting carnitine synthesis, transport, or utilization. This deficiency impairs fatty acid oxidation, leading to energy production issues and potential multi-organ dysfunction.

Assign this code when documentation clearly indicates a diagnosis of carnitine deficiency confirmed to be due to an underlying inborn error of metabolism. This includes conditions like primary carnitine deficiency (carnitine transporter defect), carnitine palmitoyltransferase deficiencies (CPT I or CPT II), or carnitine-acylcarnitine translocase deficiency.

• Ensure the documentation explicitly states "inborn error of metabolism" as the cause of carnitine deficiency; otherwise, a different code may be more appropriate.
• Do not use this code for secondary carnitine deficiencies resulting from other conditions (e.g., renal disease, certain medications).
• Code any associated manifestations or complications of the carnitine deficiency (e.g., cardiomyopathy, hypoglycemia) as additional diagnoses.