NCIthesaurus systemic primary carnitine deficiency disease ICD9CM:277.81 SNOMEDCT_US_2025_09_01:21764004 DOID:1668 MESH:C536778 NCI:C98864 DOID:14365 ICD10CM:E71.41 MIM:212140 UMLS_CUI:C0342788 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. deficiency of plasma-membrane carnitine transporter disease_ontology OMIM mapping confirmed by DO. [SN]. carnitine transporter deficiency carnitine uptake defect primary carnitine deficiency renal carnitine transport defect amino acid metabolic disorder