Systemic primary carnitine deficiency disease

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

1 clinical trial for this condition and its sub-types, 1 tagged with Systemic primary carnitine deficiency disease itself.