Acylcarnitine Profile

Carnitine transports long-chain acyl groups from fatty acids into the mitochondrial matrix, so they can be broken down through β-oxidation to acetyl CoA to obtain usable energy via the citric acid cycle. Fatty acids must be activated before binding to the carnitine molecule to form 'acylcarnitine'. The free fatty acid in the cytosol is attached with a thioester bond to coenzyme A (CoA). This reaction is catalyzed by the enzyme fatty acyl-CoA synthetase and driven to completion by inorganic pyrophosphatase.

An Acylcarnitine profile can detect a variety of inborn errors of metabolism, depending on the carbon-number involved. For example, an increase in C3 can suggest propionic academia, while an increase in C5 might indicate isovaleric academia. Also, the ratio of carbon species, i.e. C8/C10 can be useful in interpreting disease states.

Contact us for further details. To request this test, submit our Contract Research Project Test Form.

Contact Information

Address:

Kennedy Krieger Institute Genetics Laboratories
707 North Broadway
Room 500R
Baltimore, MD 21205

Billing Information:

Kennedy Krieger Institute Genetics Lab Billing Department
Attn: Ann Snitcher
Phone: (443) 923-2788
Fax: (443) 923-2755

Tax ID: 52-1524965
NPI Number1649595141

Announcements

As of May 1, 2017, we will no longer be offering peroxisomal testing in skin fibroblasts. We will continue to offer prenatal testing in cultured cells.

The laboratory was recently reaccredited by CAP. This accreditation extends through June 30, 2019.