Monarch Disease Ontology identifier MONDO_0008919 (systemic primary carnitine deficiency disease) can be described as follows. 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. Also known as: CDSP, CUD, Carnitine deficiency, Carnitine transporter defect, Carnitine uptake deficiency, SPCD, carnitine transporter deficiency, carnitine uptake defect.