Monique G.M. de Sain–van der Velden

Dried Urine Spots for Quantification of C0 (Free) Carnitine Excretion: A Validated Method for Follow-Up and Confirmatory Testing of Primary Carnitine Deficiency

Primary carnitine deficiency (PCD), caused by Organic Cation Transporter Novel 2 (OCTN2) deficiency, is detected by newborn screening (NBS) through low blood free carnitine (C0) concentrations. Confirmation of the diagnosis may be supported by demonstrating increased urinary C0 e...