Last update 19 Sep 2024

Carnitine Palmitoyl Transferase 2 Deficiency

Basic Info

Synonyms
CPT II Deficiency, CPT2, CPT2 - Carnitine palmitoyltransferase II deficiency
+ [16]
Introduction
A rare, autosomal recessive inherited disorder of long-chain fatty-acid oxidation caused by mutations in the CPT2 gene. The disease includes three main types: a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a myopathic form.

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