carnitine palmitoyl transferase II deficiency, severe infantile form
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.
MONDO:0015515
carnitine palmitoyltransferase II deficiency
is_a
CPT II deficiency, infantile
exact
CPT2, hepatocardiomuscular form
exact
CPT2, severe infantile form
exact
CPTII, hepatocardiomuscular form
exact
CPTII, severe infantile form
exact
Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form
exact
Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form
exact
Carnitine palmitoyl transferase deficiency type 2, severe infantile form
exact
carnitine palmitoyl transferase II deficiency, severe infantile form
exact