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Carnitine palmitoyl transferase II deficiency, severe infantile form
1 OMIM reference -
1 associated gene
3 connected diseases
9 signs/symptoms
Disease Type of connection
Acute necrotizing encephalopathy of childhood
Carnitine palmitoyl transferase II deficiency, myopathic form
Carnitine palmitoyl transferase II deficiency, neonatal form
Synonym(s):
- CPT2, hepatocardiomuscular form
- CPT2, severe infantile form
- CPTII, hepatocardiomuscular form
- 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
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
CPT2 P23786600650
Very frequent
- Cardiomyopathy / hypertrophic / dilated
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hypoglycemia

Frequent
- Cardiac rhythm disorder / arrhythmia
- Myopathy
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Seizures / epilepsy / absences / spasms / status epilepticus

Occasional
- Death in infancy
- Hepatocellular liver disease / hepatic failure