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Clinical Chemistry 47: 1190-1194, 2001;
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(Clinical Chemistry. 2001;47:1190-1194.)
© 2001 American Association for Clinical Chemistry, Inc.

Articles

Accumulation of Free 3-Hydroxy Fatty Acids in the Culture Media of Fibroblasts from Patients Deficient in Long-Chain L-3-Hydroxyacyl-CoA Dehydrogenase: A Useful Diagnostic Aid

Patricia M. Jones1,2a, Monica Moffitt1,2, Delanie Joseph3, Pamela A. Harthcock2, Richard L. Boriack2, Jamal A. Ibdah4, Arnold W. Strauss5 and Michael J. Bennett1,2

1 University of Texas Southwestern Medical Center, Department of Pathology, Dallas, TX 75235.
2 Children’s Medical Center, Dallas, TX 75235.
3 University of Texas Southwestern Allied Health Sciences School, Department of Medical Laboratory Science, Dallas, TX 75235.
4 Wake Forest University School of Medicine, Department of Internal Medicine, Winston-Salem, NC 27157.
5 Vanderbilt University Medical Center, Department of Pediatrics, Nashville, TN 37232.


aAddress correspondence to this author at: Children’s Medical Center, 1935 Motor Street, Dallas, TX 75235. Fax 214-456-6199; e-mail pjones@childmed.dallas.tx.us or Patricia.Jones{at}email.swmed.edu

Background: The diagnosis of long-chain L-3-hydroxy-acyl-coenzyme A dehydrogenase (LCHAD) deficiency frequently requires the study of cultured fibroblasts. We developed such a test that does not require disruption and loss of the cells.

Methods: We measured free 3-hydroxy fatty acids (3-OHFAs) in media of skin fibroblasts cultures from 11 patients with a genetic deficiency of LCHAD and the associated disorder of mitochondrial trifunctional protein (MTFP). Fibroblasts were cultured for 24 h with 100 µmol/L nonisotopic palmitate added. 3-OHFAs were measured by selected-ion monitoring, stable-isotope dilution gas chromatography-mass spectrometry with [13C]-labeled internal standards.

Results: 3-OH-hexadecanoic and 3-OH-tetradecanoic FAs were increased 14- and 11-fold, respectively, in all patients with LCHAD or MTFP deficiency when compared with control fibroblast cell lines after overnight incubation with palmitate. 3-OH-dodecanoic FA demonstrated a modest, fivefold increase in LCHAD-deficient cells. The concentrations of all 3-OHFAs were similar whether or not the medium samples were hydrolyzed to release conjugated species such as acylcarnitines, suggesting that 3-OHFAs accumulate in the media as free FAs.

Conclusions: Measurement of 3-OHFA excretion from LCHAD- or MTFP-deficient cell lines can be used as a diagnostic tool. Free FAs are the predominant form of these abnormal metabolic intermediates in culture media.




The following articles in journals at HighWire Press have cited this article:


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 Clin. Chem.Home page
E. A. Struys, N. M. Verhoeven, B. Roos, and C. Jakobs
Disease-related Metabolites in Culture Medium of Fibroblasts from Patients with D-2-Hydroxyglutaric Aciduria, L-2-Hydroxyglutaric Aciduria, and Combined D/L-2-Hydroxyglutaric Aciduria
Clin. Chem., July 1, 2003; 49(7): 1133 - 1138.
[Abstract] [Full Text] [PDF]


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