carnitine palmitoyl transferase II deficiency, neonatal form
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.
MONDO:0015515
carnitine palmitoyltransferase II deficiency
is_a
CPT II deficiency, lethal neonatal
exact
CPT2, lethal systemic form
exact
CPT2, neonatal form
exact
CPTII, lethal systemic form
exact
CPTII, neonatal form
exact
Carnitine palmitoyl transferase II deficiency, lethal systemic form
exact
Carnitine palmitoyl transferase deficiency type 2, lethal systemic form
exact
Carnitine palmitoyl transferase deficiency type 2, neonatal form
exact
carnitine palmitoyl transferase II deficiency, neonatal form
exact