" /> Carnitine-acylcarnitine translocase deficiency - CISMeF





Preferred Label : Carnitine-acylcarnitine translocase deficiency;

ICD-11 definition : Carnitine-acylcarnitine translocase (CACT) deficiency is a disorder of long chain fatty acid oxidation characterized in most patients by neonatal neurological distress (lethargy, poor feeding), cardiac rhythm disorders and hypoketotic hypoglycemia with hyperammonemia. Hepatomegaly and hypertrophic cardiomyopathy may develop secondarily.;

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Carnitine-acylcarnitine translocase (CACT) deficiency is a disorder of long chain fatty acid oxidation characterized in most patients by neonatal neurological distress (lethargy, poor feeding), cardiac rhythm disorders and hypoketotic hypoglycemia with hyperammonemia. Hepatomegaly and hypertrophic cardiomyopathy may develop secondarily.

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26/05/2025


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