carnitine palmitoyl transferase II deficiency, myopathic form

Findings

No curated finding names carnitine palmitoyl transferase II deficiency, myopathic form yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

Autosomal dominant inheritance · Autosomal recessive inheritance

Onset and course

Young adult onset · Childhood onset

HPO, annotations 2026-09-02

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• carnitine palmitoyltransferase II deficiency

Resolves to: carnitine palmitoyl transferase II deficiency, myopathic form

Also called

Carnitine palmitoyl transferase deficiency type 2, adult-onset formCarnitine palmitoyl transferase deficiency type 2, myopathic formCarnitine palmitoyl transferase II deficiency, adult-onset formCPT II deficiency, myopathic, stress-inducedCPT2, adult-onset formCPT2, myopathic formCPTII, adult-onset formCPTII, myopathic form