Also Known As
CPT II deficiency, lethal neonatalCPT2, lethal systemic formCPT2, neonatal formCPTII, lethal systemic formCPTII, neonatal formCarnitine palmitoyl transferase II deficiency, lethal systemic formCarnitine palmitoyl transferase deficiency type 2, lethal systemic formCarnitine palmitoyl transferase deficiency type 2, neonatal formcarnitine palmitoyl transferase II deficiency, neonatal formCARNITINE PALMITOYLTRANSFERASE II deficiency, lethal neonatalCPT 2 deficiency, lethal neonatalCarnitine Palmitoyltransferase 2 deficiency, antenatalCarnitine Palmitoyltransferase 2 deficiency, lethal neonatalCarnitine Palmitoyltransferase 2 deficiency, neonatalCpt2 deficiency, lethal neonatal
Definition
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.