Abnormal circulating acylcarnitine concentration

What it means

Any deviation from the normal concentration in the blood circulation of an acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine.

Acylcarnitines are esters of l-carnitine and fatty acids. Therefore, it is inferred that the number of acylcarnitines that may be formed with these fatty acids is very considerable. Similar to fatty acids, acylcarnitines are also differed by length of the acyl groups, often categorized as short, medium and long-chain acylcarnitines (simply marked as SCACs, MCACs and LCACs). Carnitine fundergoes reversible esterification of its 3-hydroxyl group producing acylcarnitine, which can enter the mitochondria with the assistance of specific translocases.

Rare diseases that can present with this1

The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.

Part of the broader category

Also called: Abnormal acetylcarnitine profile · Abnormal circulating esterified carnitine concentration