Also Known As
CPT II deficiency, infantileCPT2, hepatocardiomuscular formCPT2, severe infantile formCPTII, hepatocardiomuscular formCPTII, severe infantile formCarnitine palmitoyl transferase II deficiency, hepatocardiomuscular formCarnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular formCarnitine palmitoyl transferase deficiency type 2, severe infantile formcarnitine palmitoyl transferase II deficiency, severe infantile formCARNITINE PALMITOYLTRANSFERASE II deficiency, infantileCPT 2 deficiency, hepaticCarnitine Palmitoyltransferase 2 deficiency with hypoketotic hypoglycemiaCarnitine Palmitoyltransferase 2 deficiency, hepatocardiomuscularCarnitine Palmitoyltransferase 2 deficiency, infantileCpt2 deficiency, infantile
Definition
The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease.