Acylcarnitines

General: There are numerous acylcarnitines, and abnormal levels of one or more may be related to a metabolic disorder of fatty acid oxidation or an organic acidemia. Acylcarnitine analysis can be performed on plasma, blood spots, urine, and bile obtained either as part of a newborn screen or postmortem/at autopsy. However, there does not appear to be sufficient data to confidently report the sensitivity of such analyses for all inborn errors of metabolism that can be identified in this way. Can be helpful in evaluation of hypoglycemia, hypotonia, cardiomyopathy, rhabdomyolisis, and metabolic acidosis.

Analysis may or may not require derivatization, and thus preparation may range from minutes to about 2 hours. However actual analysis time with mass spectrometry takes only about 2 minutes.

Differential Diagnosis:
Enzyme deficiency | Abnormal acylcarnitine(s)
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