Systemic primary carnitine deficiency disease
ICD-10 Code
E71.41
Systemic primary carnitine deficiency disease
Definition
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 Carnitine deficiency, Carnitine transporter defect, carnitine transporter deficiency, carnitine uptake defect, Carnitine uptake deficiency, CDSP, CUD, deficiency of plasma-membrane carnitine transporter, primary carnitine deficiency, renal carnitine transport defect, SPCD, systemic primary carnitine deficiency disease — per MONDO