/systemic primary carnitine deficiency disease

systemic primary carnitine deficiency disease

Rare Disease

MONDO:0008919

Also Known As

CDSPCUDCarnitine deficiencyCarnitine transporter defectCarnitine uptake deficiencySPCDcarnitine transporter deficiencycarnitine uptake defectcuddeficiency of plasma-membrane carnitine transporterprimary carnitine deficiencyrenal carnitine transport defectsystemic primary carnitine deficiency diseaseCARNITINE deficiency, systemic primaryCarnitine deficiency, primaryCarnitine deficiency, systemic, due to defect in renal reabsorption of CarnitineCarnitine deficiency, systemic, due to defect in renal reabsorption of carnitineCarnitine plasma-membrane transporter deficiencyCarnitine transporter, plasma-Membrane, deficiency ofCarnitine uptake defectsystemic Carnitine deficiencysystemic primary carnitine deficiency

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.