Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma. The disease is Systemic primary carnitine deficiency (Orphanet_158, an Orphanet rare-disease nomenclature entry). Also known as: CUD, Carnitine transporter defect, Carnitine uptake deficiency, Deficiency of plasma-membrane carnitine transporter, PCD, Primary systemic carnitine deficiency.