carnitine palmitoyl transferase II deficiency, neonatal form
Findings
No curated finding names carnitine palmitoyl transferase II deficiency, neonatal form yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0012136), read 2026-09-29. CC BY 4.0.
- Onset and course
- Death in infancy · Fetal onset
HPO, annotations 2026-09-02
Features
62 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Agenesis of corpus callosumHPOHP:0001274
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Decreased plasma free carnitineHPOHP:0008315
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Elevated circulating alanine aminotransferase concentrationHPOHP:0031964
- 3 of 3 reported patients
- Elevated circulating aspartate aminotransferase concentrationHPOHP:0031956
- 3 of 3 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Elevated circulating creatinine concentrationHPOHP:0003259
Show the remaining 50
- VentriculomegalyHPOHP:0002119
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Decreased plasma total carnitineHPOHP:0011936
- Very frequent (80% to 99% of cases)
- Elevated circulating fatty acylcarnitine concentrationHPOHP:0045045
- Very frequent (80% to 99% of cases)
- MyoglobinuriaHPOHP:0002913
- Very frequent (80% to 99% of cases)
- Red-brown urineHPOHP:0040320
- Very frequent (80% to 99% of cases)
- Reduced tissue carnitine O-palmitoyltransferase 2 activityHPOHP:0012380
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CPT2HGNC:2330
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
8 names
Resolves to: carnitine palmitoyl transferase II deficiency, neonatal form
- Also called
- Carnitine palmitoyl transferase deficiency type 2, lethal systemic formCarnitine palmitoyl transferase deficiency type 2, neonatal formCarnitine palmitoyl transferase II deficiency, lethal systemic formCPT II deficiency, lethal neonatalCPT2, lethal systemic formCPT2, neonatal formCPTII, lethal systemic formCPTII, neonatal form