" /> Carnitine palmitoyltransferase II deficiency - CISMeF





Preferred Label : Carnitine palmitoyltransferase II deficiency;

ICD-11 definition : 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 (see these terms).;

ICD-11 synonym : CPT2 deficiency; CPT2 - [Carnitine palmitoyltransferase II] deficiency;

Details


Keyword's position in hierarchy(ies) : arborescence

You can consult :

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 (see these terms).

Nous contacter.
17/06/2025


[Home] [Top]

© Rouen University Hospital. Any partial or total use of this material must mention the source.