systemic primary carnitine deficiency disease ICD9CM:277.81 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. OMIM mapping confirmed by DO. [SN]. SNOMEDCT_US_2020_03_01:21764004 DOID:1668 MESH:C536778 NCI:C98864 DOID:14365 OMIM:212140 ICD10CM:E71.41 UMLS_CUI:C0342788 disease_ontology carnitine transporter deficiency carnitine uptake defect deficiency of plasma-membrane carnitine transporter primary carnitine deficiency renal carnitine transport defect amino acid metabolic disorder