Caring for someone with this diagnosis? Eleplan keeps diagnoses, medications, documents and every specialist in one plan.
Start free with EleplanCarnitine palmitoyl transferase II deficiency, neonatal form
ORPHA:228308Clinical subtype
Also called CPT2, lethal systemic form · CPT2, neonatal form · CPTII, lethal systemic form · CPTII, neonatal form · Carnitine palmitoyl transferase II deficiency, lethal systemic form · Carnitine palmitoyl transferase deficiency type 2, lethal systemic form · Carnitine palmitoyl transferase deficiency type 2, neonatal form
What it is
The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- 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
Very common80–99%
6Common30–79%
18- Abnormality of brain morphology
- Abnormality of neuronal migration
- Agenesis of corpus callosum
- Arrhythmia
- Cardiomyopathy
- Cerebral calcification
- Cystic renal dysplasia
- Dicarboxylic aciduria
- Elevated circulating creatine kinase concentration
- Feeding difficulties
- Hepatic failure
- Hepatomegaly
- Hyperlipidemia
- Hypoketotic hypoglycemia
- Neonatal respiratory distress
- Polycystic kidney dysplasia
- Renal insufficiency
- Seizure
Sometimes5–29%
19- Abnormal basal ganglia morphology
- Abnormal myocardium morphology
- Cardiomegaly
- Cerebellar vermis hypoplasia
- Coma
- Generalized hypotonia
- Heart block
- Hepatic calcification
and 11 more in this range
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.
Powered by Eleplan
A rare diagnosis is just the start. Eleplan keeps the whole care plan in one place.
Diagnoses, medications, documents, appointments, and the whole care team — organized and always in sync, so you are not retelling the same story to every new specialist. With Ellie, your AI care assistant, on top of it. Free to start.