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Carnitine palmitoyl transferase II deficiency, neonatal form
Disease definition
The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), 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.
ORPHA:228308
Classification level: Subtype of disorder- 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
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Neonatal
- ICD-10: E71.3
- ICD-11: 5C52.00
- OMIM: 608836
- UMLS: C1833518
- MeSH: C563463
- GARD: -
- MedDRA: -
Summary
Epidemiology
It is a rare form of CPT II deficiency that has been reported in less than 20 families.
Clinical description
Affected infants experience hypoketotic hypoglycemia, liver and respiratory failure and can present with cardiomyopathy, muscle hypotonia, liver calcification, cystic dysplastic kidneys and malformations of the brain due to a neuronal migration defect. Seizures and coma can occur as well as cardiac arrhythmias that generally lead to cardiac arrest in the perinatal/ early infantile period. Death occurs within days to months.
Etiology
The severe neonatal CPT II deficiency is caused by homozygous or compound heterozygous CPT2 mutations that typically result in complete loss of activity of the CPT II enzyme.
Diagnostic methods
The diagnosis is made by an initial tandem mass spectrometry of serum/plasma acylcarnitines followed by mutation analysis and measurements of CPTII enzyme activity in fresh circulating lymphocytes, muscle or skin fibroblasts.
Differential diagnosis
The differential diagnosis should include severe forms of carnitine-acylcarnitine translocase deficiency (CACT) and very-long-chain acyl-CoA dehydrogenase deficiency (see these terms).
Antenatal diagnosis
Prenatal diagnosis is available based on a combination of enzymatic and molecular testing (if mutations have been identified in the proband).
Genetic counseling
Transmission is autosomal recessive.
Management and treatment
Treatment is only symptomatic.
Prognosis
Prognosis is poor. The neonatal form is almost always lethal during the first months of life.
A summary on this disease is available in Deutsch (2010) Español (2010) Français (2010) Italiano (2010) Nederlands (2010)
Detailed information
General public
- Article for general public
- Svenska (2018) - Socialstyrelsen
Guidelines
- Clinical practice guidelines
- Français (2021) - PNDS
Disease review articles
- Clinical genetics review
- English (2019) - GeneReviews


Additional information