Primary carnitine deficiency
ICD-10 E71.41 is a billable code used to indicate a diagnosis of primary carnitine deficiency.
Primary carnitine deficiency is a genetic metabolic disorder characterized by the body's inability to transport long-chain fatty acids into the mitochondria for energy production due to a deficiency of carnitine. This condition is caused by mutations in the SLC22A5 gene, which encodes the organic cation/carnitine transporter. Patients with primary carnitine deficiency often present with symptoms such as muscle weakness, hypoglycemia, cardiomyopathy, and liver dysfunction, particularly during periods of fasting or illness. Diagnosis is typically confirmed through biochemical testing that reveals low levels of free carnitine in the blood and urine. Early diagnosis and treatment, which may include carnitine supplementation and dietary modifications, are crucial to prevent serious complications. The condition is inherited in an autosomal recessive pattern, making family history an important aspect of clinical assessment. Management often involves a multidisciplinary approach, including genetic counseling and nutritional support.
Detailed family history and genetic testing results.
Patients with a family history of metabolic disorders presenting with unexplained symptoms.
Genetic counseling documentation is essential for family planning discussions.
Growth and developmental assessments, dietary history.
Infants or children presenting with unexplained lethargy or failure to thrive.
Monitoring for developmental milestones and nutritional status is critical.
Used when genetic testing is performed to confirm primary carnitine deficiency.
Document the rationale for testing and results.
Genetic counseling may be necessary based on results.
Symptoms can include muscle weakness, hypoglycemia, cardiomyopathy, and liver dysfunction, particularly during periods of fasting or illness.
Diagnosis is made through biochemical testing showing low levels of free carnitine and genetic testing for mutations in the SLC22A5 gene.
