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Start free with EleplanCarnitine-acylcarnitine translocase deficiency
ORPHA:159Disease
Also called CACT deficiency
What it is
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.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
20- Arrhythmia
- Cardiomyopathy
- Decreased circulating carnitine concentration
- Dicarboxylic aciduria
- Elevated circulating hepatic transaminase concentration
- Elevated creatine kinase after exercise
- Elevated plasma acylcarnitine levels
- Encephalopathy
- Fasting hypoglycemia
- Global developmental delay
- Hepatomegaly
- Hyperammonemia
- Hypoketotic hypoglycemia
- Hypotension
- Irritability
- Lethargy
- Muscle weakness
- Respiratory insufficiency
- Rhabdomyolysis
- Ventricular tachycardia
Sometimes5–29%
10and 2 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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