Search for a rare disease
Other search option(s)
Carnitine palmitoyl transferase II deficiency, neonatal form
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:228308Classification level: Subtype of disorder
- 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
- OMIM: 608836
- UMLS: C1833518
- MeSH: -
- GARD: -
- MedDRA: -
It is a rare form of CPT II deficiency that has been reported in less than 20 families.
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.
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.
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.
The differential diagnosis should include severe forms of carnitine-acylcarnitine translocase deficiency (CACT) and very-long-chain acyl-CoA dehydrogenase deficiency (see these terms).
Prenatal diagnosis is available based on a combination of enzymatic and molecular testing (if mutations have been identified in the proband).
Transmission is autosomal recessive.
Management and treatment
Treatment is only symptomatic.
Prognosis is poor. The neonatal form is almost always lethal during the first months of life.
Article for general public
- Clinical genetics review
- English (2019)