has material basis in germline mutation in CPT2 carnitine palmitoyl transferase II deficiency, neonatal form https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/carnitine_palmitoyltransferase_ii_deficiency_lethal_neonatal Carnitine palmitoyl transferase deficiency type 2, lethal systemic form carnitine palmitoyl transferase II deficiency, neonatal form OMIM:608836 Carnitine palmitoyl transferase II deficiency, lethal systemic form MONDO:0012136 NANDO:2201132 CPT2, neonatal form CPTII, neonatal form CPTII, lethal systemic form CPT II deficiency, lethal neonatal GARD:0017151 MESH:C563463 MEDGEN:318896 CPT2, lethal systemic form Orphanet:228308 Carnitine palmitoyl transferase deficiency type 2, neonatal form UMLS:C1833518 The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure. carnitine palmitoyltransferase II deficiency