Carnitine-acylcarnitine translocase deficiency: A very rare inherited metabolic disorder where long-chain fatty acids can't be metabolized properly because the compound needed to transport it is faulty. Ultimately this prevents certain fats (long-chain acylcarnitine) being converted to energy and results in a build up of the fat which is harmful to body organs and tissues. More detailed information about the symptoms, causes, and treatments of Carnitine-acylcarnitine translocase deficiency is available below.
See full list of 13 symptoms of Carnitine-acylcarnitine translocase deficiency
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Types of Carnitine-acylcarnitine translocase deficiency
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Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Carnitine-acylcarnitine translocase deficiency as a "rare disease".
Source - Orphanet
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