Disorders of carnitine metabolism
ICD-10 E71.4 is a billable code used to indicate a diagnosis of disorders of carnitine metabolism.
Disorders of carnitine metabolism encompass a group of inherited metabolic conditions characterized by the body's inability to properly utilize carnitine, a nutrient essential for the transport of fatty acids into the mitochondria for energy production. These disorders can lead to a range of clinical manifestations, including muscle weakness, hypoglycemia, cardiomyopathy, and hepatic dysfunction. The most common forms include primary carnitine deficiency, which results from a defect in the SLC22A5 gene responsible for carnitine transport, and secondary carnitine deficiency, which may arise from other metabolic disorders or conditions that affect carnitine levels. Diagnosis typically involves biochemical testing to measure carnitine levels in blood and urine, as well as genetic testing to identify specific enzyme deficiencies. Early detection and management are crucial to prevent severe complications, and treatment often includes carnitine supplementation and dietary modifications. Understanding the underlying genetic and biochemical mechanisms is essential for effective management and counseling of affected individuals.
Detailed family history and genetic testing results must be documented.
Patients presenting with unexplained muscle weakness or metabolic crises.
Genetic counseling may be necessary for affected families.
Growth and developmental milestones should be documented along with metabolic assessments.
Infants with failure to thrive or recurrent hypoglycemic episodes.
Monitoring for developmental delays and nutritional needs is critical.
Used to confirm diagnosis of carnitine deficiency.
Document the reason for testing and results.
Geneticists and metabolic specialists should ensure comprehensive metabolic panels are included.
Common symptoms include muscle weakness, hypoglycemia, cardiomyopathy, and fatigue. Symptoms can vary based on the specific type of disorder and the age of onset.
