has material basis in germline mutation in SLC22A5 inborn disorder of amino acid metabolism systemic primary carnitine deficiency disease https://github.com/monarch-initiative/mondo/issues/9097 https://www.malacards.org/card/carnitine_deficiency_systemic_primary Carnitine deficiency, systemic, due to defect in renal reabsorption of Carnitine CARNITINE deficiency, systemic primary systemic Carnitine deficiency MEDGEN:90999 carnitine transporter deficiency Carnitine uptake defect DOID:14365 MESH:C536778 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. NCIT:C98864 ICD9:277.81 Carnitine deficiency ICD9:277.82 Carnitine transporter, plasma-Membrane, deficiency of NANDO:2200508 Orphanet:158 UMLS:C0342788 SPCD carnitine uptake defect MONDO:0008919 renal carnitine transport defect deficiency of plasma-membrane carnitine transporter NANDO:1200973 CDSP SCTID:21764004 ICD10CM:E71.41 cud Carnitine uptake deficiency Carnitine plasma-membrane transporter deficiency systemic primary carnitine deficiency primary carnitine deficiency Carnitine deficiency, primary Carnitine transporter defect systemic primary carnitine deficiency disease Carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine OMIM:212140 GARD:0005104 CUD disorder of fatty acid oxidation and ketogenesis disorder of carnitine cycle and carnitine transport