E71.314

HCC Category Mapping

What This Code Means

A genetic condition affecting muscle function where the enzyme carnitine palmitoyltransferase is deficient, preventing the body from properly using fats for energy in muscle tissue.

Coding Tips

• •Document whether this affects skeletal muscle, cardiac muscle, or both, as clinical presentation varies
• •Note any episodes of rhabdomyolysis, myoglobinuria, or acute muscle weakness that may require additional codes

Clinical Significance

Muscle carnitine palmitoyltransferase (CPT II) deficiency is the most common inherited disorder of lipid metabolism affecting skeletal muscle, presenting with recurrent episodes of rhabdomyolysis, myoglobinuria, and muscle pain triggered by prolonged exercise, fasting, or illness. The myopathic form typically presents in adolescence or adulthood, while severe infantile forms can cause cardiomyopathy and liver failure. Long-term management focuses on dietary modification and avoidance of metabolic triggers.

Documentation Requirements

• ✓Document which CPT isoform is deficient (CPT I vs CPT II), whether the presentation is myopathic, infantile, or neonatal, creatine kinase levels during episodes, genetic testing results, history of rhabdomyolysis episodes, and dietary management plan.
• ✓Record any cardiac or hepatic involvement.

Commonly Confused Codes