Carnitine-acylcarnitine translocase deficiency (Q91996): Difference between revisions

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Latest 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
default for all languages	ID_677949122
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.