Muscle carnitine palmitoyltransferase deficiency
ICD-10 E71.314 is a billable code used to indicate a diagnosis of muscle carnitine palmitoyltransferase deficiency.
Muscle carnitine palmitoyltransferase deficiency (CPT II deficiency) is a rare genetic metabolic disorder characterized by a deficiency of the enzyme carnitine palmitoyltransferase II, which is crucial for the transport of long-chain fatty acids into the mitochondria for beta-oxidation. This condition primarily affects skeletal muscle, leading to impaired fatty acid metabolism during periods of fasting or intense exercise. Patients may present with symptoms such as muscle weakness, myalgia, and rhabdomyolysis, particularly after prolonged physical activity. The disorder is inherited in an autosomal recessive pattern, and diagnosis is typically confirmed through biochemical testing showing decreased enzyme activity in muscle tissue or through genetic testing identifying mutations in the CPT2 gene. Management focuses on dietary modifications, including a high-carbohydrate diet and avoidance of fasting, along with supportive care during episodes of muscle pain or weakness. Early diagnosis and intervention are critical to prevent severe complications, including acute kidney injury due to rhabdomyolysis.
Detailed family history and genetic testing results.
Patients presenting with unexplained muscle weakness or exercise intolerance.
Ensure genetic counseling is documented for affected families.
Neurological assessments and muscle biopsy results.
Patients with recurrent muscle pain or episodes of rhabdomyolysis.
Document any neurological evaluations to rule out other conditions.
Used when confirming a diagnosis of muscle carnitine palmitoyltransferase deficiency.
Document the indication for testing and results.
Genetic counseling may be necessary for affected families.
Common symptoms include muscle weakness, myalgia, and episodes of rhabdomyolysis, particularly after exercise or fasting.
