Carnitine palmitoyltransferase II deficiency
MONDO:0015515Carnitine 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.
Also known as: CPT II deficiency, CPT2, CPTII, Carnitine palmitoyltransferase deficiency type 2, carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase 2 deficiency, Carnitine palmitoyltransferase II (CPT II) deficiency
1 clinical trial for this condition and its sub-types.
Follow this condition — get notified about new trialsSub-types
Broader categories
Disease
(680)
Metabolic disease
(233)
Hereditary disease
(176)
Inborn errors of metabolism
(45)
Human disease
(14)
Disorder of fatty acid and ketone body metabolism
(3)
Disease of genetic or genomic mechanism
(2)
Inborn disorder of energy metabolism
(1)
Carnitine palmitoyl transferase deficiency
(0)
Disease by developmental or physiological process
(0)