Carnitine Palmitoyltransferase II Deficiency

**Semantic type:** Disease or Syndrome

**Definition:** 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.

**Synonyms:** - CPT II Deficiency