Carnitine-acylcarnitine translocase deficiency (Q91996): Difference between revisions
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Revision as of 07:09, 16 August 2026
Carnitine-acylcarnitine translocase (CACT) deficiency is a disorder of long chain fatty acid oxidation characterised in most patients by neonatal neurological distress (lethargy, poor feeding), cardiac rhythm disorders and hypoketotic hypoglycaemia with hyperammonemia. Hepatomegaly and hypertrophic cardiomyopathy may develop secondarily.
| Language | Label | Description | Also known as |
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| default for all languages | ID_677949122 |
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| English | Carnitine-acylcarnitine translocase deficiency |
Carnitine-acylcarnitine translocase (CACT) deficiency is a disorder of long chain fatty acid oxidation characterised in most patients by neonatal neurological distress (lethargy, poor feeding), cardiac rhythm disorders and hypoketotic hypoglycaemia with hyperammonemia. Hepatomegaly and hypertrophic cardiomyopathy may develop secondarily. |
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CID11:ID_677949122
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