carnitine palmitoyl transferase II deficiency, severe infantile form
Findings
No curated finding names carnitine palmitoyl transferase II deficiency, severe infantile form yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease.
Definition from the Mondo Disease Ontology (MONDO:0010914), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
33 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.
- CardiomegalyHPOHP:0001640
- 1 of 1 reported patient
- Elevated circulating creatine kinase activityHPOHP:0003236
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- HepatomegalyHPOHP:0002240
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Hypoketotic hypoglycemiaHPOHP:0001985
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Increased circulating lactate dehydrogenase concentrationHPOHP:0025435
- 1 of 1 reported patient
- Respiratory arrestHPOHP:0005943
- 1 of 1 reported patient
Show the remaining 21
- Episodic abdominal painHPOHP:0002574
- Frequent (30% to 79% of cases)
- Exercise intoleranceHPOHP:0003546
- Frequent (30% to 79% of cases)
- Exercise-induced muscle crampsHPOHP:0003710
- Frequent (30% to 79% of cases)
- Exercise-induced myalgiaHPOHP:0003738
- Frequent (30% to 79% of cases)
- HeadacheHPOHP:0002315
- Frequent (30% to 79% of cases)
- Intermittent painful muscle spasmsHPOHP:0011964
- Frequent (30% to 79% 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
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
8 names
Resolves to: carnitine palmitoyl transferase II deficiency, severe infantile form
- Also called
- Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular formCarnitine palmitoyl transferase deficiency type 2, severe infantile formCarnitine palmitoyl transferase II deficiency, hepatocardiomuscular formCPT II deficiency, infantileCPT2, hepatocardiomuscular formCPT2, severe infantile formCPTII, hepatocardiomuscular formCPTII, severe infantile form