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Start free with EleplanCarnitine palmitoyl transferase II deficiency, severe infantile form
ORPHA:228305Clinical subtype
Also called CPTII, severe infantile form · Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form · Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form · Carnitine palmitoyl transferase deficiency type 2, severe infantile form · CPT2, hepatocardiomuscular form · CPT2, severe infantile form · CPTII, hepatocardiomuscular form
What it is
The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Clinical subtype
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Common30–79%
16- Cold-induced muscle cramps
- Decreased plasma free carnitine
- Decreased plasma total carnitine
- Elevated circulating creatine kinase concentration
- Elevated plasma acylcarnitine levels
- Episodic abdominal pain
- Exercise-induced muscle cramps
- Exercise-induced myalgia
- Exercise intolerance
- Headache
- Intermittent painful muscle spasms
- Muscle weakness
- Myalgia
- Myoglobinuria
- Myopathy
- Red-brown urine
These 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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