carnitine palmitoyltransferase II deficiency
Findings
No curated finding names carnitine palmitoyltransferase II deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form.
Definition from the Mondo Disease Ontology (MONDO:0015515), read 2026-09-29. CC BY 4.0.
Features
42 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.
- Muscle weaknessHPOHP:0001324
- Very frequent (80% to 99% of cases)
- MyalgiaHPOHP:0003326
- Very frequent (80% to 99% of cases)
- Reduced tissue carnitine O-palmitoyltransferase 2 activityHPOHP:0012380
- Very frequent (80% to 99% of cases)
- Decreased plasma free carnitineHPOHP:0008315
- Frequent (30% to 79% of cases)
- Decreased plasma total carnitineHPOHP:0011936
- Frequent (30% to 79% of cases)
- Elevated circulating creatine kinase activityHPOHP:0003236
- Frequent (30% to 79% of cases)
- Elevated circulating fatty acylcarnitine concentrationHPOHP:0045045
- Frequent (30% to 79% of cases)
- Exercise intoleranceHPOHP:0003546
- Frequent (30% to 79% of cases)
- Exercise-induced myalgiaHPOHP:0003738
- Frequent (30% to 79% of cases)
- HyperlipidemiaHPOHP:0003077
- Frequent (30% to 79% of cases)
- MyoglobinuriaHPOHP:0002913
- Frequent (30% to 79% of cases)
- MyopathyHPOHP:0003198
- Frequent (30% to 79% of cases)
Show the remaining 30
- Red-brown urineHPOHP:0040320
- Frequent (30% to 79% of cases)
- Cold-induced muscle crampsHPOHP:0003449
- Occasional (5% to 29% of cases)
- Episodic abdominal painHPOHP:0002574
- Occasional (5% to 29% of cases)
- Exercise-induced muscle crampsHPOHP:0003710
- Occasional (5% to 29% of cases)
- HeadacheHPOHP:0002315
- Occasional (5% to 29% of cases)
- HepatomegalyHPOHP:0002240
- Occasional (5% to 29% of cases)
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
- Definitive · ClinGen · Autosomal recessive · 2018
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · Natera · Autosomal recessive · 2023
Where it sits
Other names
4 names
Resolves to: carnitine palmitoyltransferase II deficiency
- Also called
- Carnitine palmitoyltransferase deficiency type 2CPT II deficiencyCPT2CPTII