carnitine-acylcarnitine translocase deficiency
Findings
No curated finding names carnitine-acylcarnitine translocase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy.
Definition from the Mondo Disease Ontology (MONDO:0008918), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
34 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.
- Cardiac arrestHPOHP:0001695
- 1 of 1 reported patient
- Hepatic steatosisHPOHP:0001397
- 1 of 1 reported patient
- HepatomegalyHPOHP:0002240
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- LethargyHPOHP:0001254
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Neonatal hypoglycemiaHPOHP:0001998
- 1 of 1 reported patient
- Reduced circulating 6-pyruvoyltetrahydropterin synthase activityHPOHP:6000575
- 6 of 6 reported patients
Show the remaining 22
- Elevated creatine kinase after exerciseHPOHP:0008331
- Very frequent (80% to 99% of cases)
- Elevated urinary dicarboxylic acid levelHPOHP:0003215
- Very frequent (80% to 99% of cases)
- EncephalopathyHPOHP:0001298
- Very frequent (80% to 99% of cases)
- Fasting hypoglycemiaHPOHP:0003162
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- HyperammonemiaHPOHP:0001987
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.
- SLC25A20HGNC:1421
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · ClinGen · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: carnitine-acylcarnitine translocase deficiency
- Also called
- CACT deficiency