Carnitine palmitoyl transferase II deficiency, severe infantile form
Carnitine palmitoyl transferase II deficiency, severe infantile form
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.
Also known as Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form, Carnitine palmitoyl transferase deficiency type 2, severe infantile form, Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form, carnitine palmitoyl transferase II deficiency, severe infantile form, CPT II deficiency, infantile, CPT2, hepatocardiomuscular form, CPT2, severe infantile form, CPTII, hepatocardiomuscular form, CPTII, severe infantile form — per MONDO