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Carnitine palmitoyl transferase II deficiency, neonatal form
1 OMIM reference -
1 associated gene
3 connected diseases
12 signs/symptoms
Disease Type of connection
Acute necrotizing encephalopathy of childhood
Carnitine palmitoyl transferase II deficiency, myopathic form
Carnitine palmitoyl transferase II deficiency, severe infantile form
Synonym(s):
- 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
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
- Abnormal hepatic enzymes / transaminases
- Asthenia / fatigue / weakness
- Autosomal recessive inheritance
- Cardiac rhythm disorder / arrhythmia
- Cardiomegaly
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hypoglycemia
- Multicystic kidney / renal dysplasia
- Seizures / epilepsy / absences / spasms / status epilepticus

Frequent
- Intracranial / cerebral calcifications
- Renal failure
- Structural anomalies of the nervous system