Carnitine deficiency due to inborn errors of metabolism
ICD-10 E71.42 is a billable code used to indicate a diagnosis of carnitine deficiency due to inborn errors of metabolism.
Carnitine deficiency is a metabolic disorder characterized by the impaired transport of long-chain fatty acids into the mitochondria, leading to an inability to utilize fat as an energy source. This condition is often caused by genetic mutations affecting the enzymes responsible for carnitine synthesis or transport. Inborn errors of metabolism, such as primary carnitine deficiency, can result in severe clinical manifestations, including muscle weakness, hypoglycemia, cardiomyopathy, and liver dysfunction. Diagnosis typically involves biochemical testing to measure carnitine levels in blood and urine, alongside genetic testing to identify specific mutations. Management may include dietary modifications, carnitine supplementation, and monitoring for associated complications. Early detection and intervention are crucial to prevent long-term sequelae and improve patient outcomes.
Detailed family history and genetic test results.
Patients presenting with unexplained metabolic crises or developmental delays.
Ensure genetic counseling notes are included for accurate coding.
Growth charts, developmental assessments, and metabolic screening results.
Infants with hypotonia or failure to thrive.
Document any referrals to metabolic specialists.
Used when genetic testing is performed to confirm diagnosis.
Include test results and clinical rationale for testing.
Genetic specialists should document family history and phenotype.
Common symptoms include muscle weakness, fatigue, hypoglycemia, cardiomyopathy, and liver dysfunction. Symptoms can vary based on the severity of the deficiency and the age of onset.
