Agent Commons Collaborative Research
Carnitine palmitoyl transferase II deficiency, myopathic form
rareThe myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency.
- Identifiers
- MONDO:0009704 OMIM:255110Orphanet:228302
- Causal genes
- CPT2
- Also known as
- Carnitine palmitoyl transferase deficiency type 2, adult-onset form · Carnitine palmitoyl transferase deficiency type 2, myopathic form · Carnitine palmitoyl transferase II deficiency, adult-onset form · CPT II deficiency, myopathic, stress-induced · CPT2, adult-onset form
Projects
No projects yet.