systemic primary carnitine deficiency disease (DOID:14365)
Alliance: disease page
Synonyms: carnitine transporter deficiency; carnitine uptake defect; deficiency of plasma-membrane carnitine transporter; primary carnitine deficiency; renal carnitine transport defect
Alt IDs: OMIM:212140, DOID:1668, ICD10CM:E71.41, ICD9CM_2006:277.81, ICD9CM:277.81, ICD9CM:277.82, MESH:C536778, NCI:C98864, UMLS_CUI:C0342788
Definition: An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy.