Carnitine, an amino acid synthesized in animal tissues from lysine and methionine by an iron-ascorbate dependent pathway, functions as a carrier of fatty acids across cell membranes.
Serum carnitine analysis is useful in the diagnosis and monitoring of patients with carnitine deficiency (either primary or secondary).
Primary systemic carnitine deficiency (CDSP), also known as carnitine uptake defect (CUD) is an autosomal recessive disorder that affects carnitine uptake by cells and tissues through a defect in the plasma membrane carnitine transporter.
The incidence of CDSP is approximately 1 in 50,000. The clinical presentation and age of onset of CDSP can vary, but typical findings include hypoketotic hypoglycemia, hepatomegaly, cardiomyopathy, skeletal myopathy, and weakness.
If diagnosed early, treatment with carnitine can reverse many of the clinical symptoms.
Secondary carnitine deficiency occurs in some disease states, in patients on carnitine-poor diets, or secondary to medications including valproic acid. It is also found in a number of metabolic disorders affecting fatty acid and organic acid metabolism. In these disorders, carnitine complexes with the accumulated substrate of the blocked metabolic step, and the resulting acylcarnitines are excreted in the urine, leading to a depletion of carnitine in the patient.
Elevated free carnitine can occur in CPT-1 deficiency or secondary to dietary carnitine supplementation, while increased esterified carnitine may indicate an underlying metabolic defect. This test is not intended to diagnose these disorders. All results should be interpreted in the context of clinical findings, relevant history, and other laboratory data.
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