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Start free with EleplanCarnitine palmitoyl transferase II deficiency, myopathic form
ORPHA:228302Clinical subtype
Also called Carnitine palmitoyl transferase II deficiency, adult-onset form · Carnitine palmitoyl transferase deficiency type 2, adult-onset form · Carnitine palmitoyl transferase deficiency type 2, myopathic form · CPT2, adult-onset form · CPT2, myopathic form · CPTII, adult-onset form · CPTII, myopathic form
What it is
The 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.
Key facts
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Inheritance
- Autosomal recessive
- Classified as
- Clinical subtype
Recorded for the broader condition
- Prevalence
- 1-9 / 100 000Carnitine palmitoyltransferase II deficiency
Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.
Signs and symptoms
Very common80–99%
6Common30–79%
4These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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