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Clinical Chemistry 47: 1763-1768, 2001;
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(Clinical Chemistry. 2001;47:1763-1768.)
© 2001 American Association for Clinical Chemistry, Inc.

Articles

Hepatic Carnitine Palmitoyltransferase I Deficiency: Acylcarnitine Profiles in Blood Spots Are Highly Specific

Ralph Fingerhut1a, Wulf Röschinger2, Ania C. Muntau2, Torsten Dame1, Jens Kreischer1, Ralf Arnecke1, Andrea Superti-Furga3, Heinz Troxler3, Bernhard Liebl4, Bernhard Olgemöller1 and Adelbert A. Roscher2

1 Labor Becker, Olgemöller & Kollegen, D-81671 Munich, Germany.

2 Dr. von Hauner Children’s Hospital, Department of Clinical Chemistry and Biochemical Genetics, Ludwig-Maximilians-University, D-80337 Munich, Germany.

3 University Children’s Hospital, CH-8032 Zurich, Switzerland.

4 Public Health Screening Center, D-80764 Oberschleissheim, Germany.

aAddress correspondence to this author at: Labor Becker, Olgemöller & Kollegen, Führichstrasse 70, D-81671 Munich, Germany. Fax 49-89-544-654-10; e-mail fingerhu{at}labor-bo.de.

Background: In carnitine palmitoyltransferase I (CPT-I) deficiency (MIM 255120), free carnitine can be increased with no pathologic acylcarnitine species detectable. As inclusion of CPT-I deficiency in high-risk and newborn screening could prevent potentially life-threatening complications, we tested whether CPT-I deficiency might be diagnosed by electrospray ionization-tandem mass spectrometry (ESI-MS/MS).

Methods: A 3.2-mm spot of whole blood dried on filter paper was extracted with 150 µL of methanol. After derivatization of carnitine and acylcarnitines to their butyl esters, the samples were analyzed by ESI-MS/MS with 37.5 pmol of L-[2H3]carnitine and 7.5 pmol of L-[2H3]palmitoylcarnitine as internal standards.

Results: In all dried-blood specimens from each of three patients with CPT-I deficiency, we found an invariably increased ratio of free carnitine to the sum of palmitoylcarnitine and stearoylcarnitine [C0/(C16 + C18)]. The ratio in patients was between 175 and 2000, or 5- to 60-fold higher than the ratio for the 99.9th centile of the normal newborn population in Bavaria (n = 177 842). No overlap with the values of children that were known to be supplemented with carnitine was detected [C0/(C16 + C18), 34 ± 30; mean ± SD; n = 27].

Conclusions: ESI-MS/MS provides a highly specific acylcarnitine profile from dried-blood samples. The ratio of free carnitine to the sum of palmitoylcarnitine and stearoylcarnitine [C0/(C16 + C18)] is highly specific for CPT-I deficiency and may allow presymptomatic diagnosis.




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