carnitine palmitoyltransferase II deficiency
Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form.
MONDO:0016117
obsolete muscular lipidosis (obsolete MONDO:0016117)
excluded_subClassOf
MONDO:0700284
carnitine palmitoyl transferase deficiency
is_a
CPT II deficiency
exact
CPT2
exact
CPTII
exact
Carnitine palmitoyltransferase 2 deficiency
related
Carnitine palmitoyltransferase II (CPT II) deficiency
related
Carnitine palmitoyltransferase deficiency type 2
exact
carnitine palmitoyltransferase II deficiency
exact