Current methods for determination of L-carnitine and acylcarnitines

被引:19
作者
Möder, M
Kiessling, A
Löster, H
机构
[1] UFZ Helmholtz Ctr Environm Res, Dept Analyt Chem, D-04318 Leipzig, Germany
[2] Heinrich Braun Clin Orthopaed, Zwickau, Germany
[3] Univ Leipzig, Inst Lab Med Clin Chem & Mol Diagnost, D-7010 Leipzig, Germany
来源
MONATSHEFTE FUR CHEMIE | 2005年 / 136卷 / 08期
关键词
acylcarnitines; analytical methods; L-carnitine; newborn screening;
D O I
10.1007/s00706-005-0320-0
中图分类号
O6 [化学];
学科分类号
0703 ;
摘要
L-Carnitine as endogenous compound plays an important role within several metabolic pathways and a deficiency of L-carnitine can cause adverse effects in physiological and/or mental state of health and disease. The prevention of diseases related to carnitine deficiency requires, first of all, the exact determination of L-carnitine and its esters in biological material at pmol/cm(3) level. A series of analytical procedures based on biochemical assays as well as on physical methods are available today. Determination of free and total carnitine is sometimes sufficient for a clinical diagnosis, but in most cases, such as in newborn screening for genetic disorders, detailed qualitative and quantitative L-carnitine/acylcarnitine profiling is needed. Technological progress has also revolutionized the determination of carnitines. Today, comprehensive and diagnostically relevant information can be obtained by mass spectrometry. An overview is given of the technical and methodological developments in carnitine analysis and some applications, such as in neonatal screening, diabetes mellitus, and cardiomyopathy.
引用
收藏
页码:1279 / 1291
页数:13
相关论文
共 75 条
[1]   Medium-chain Acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-Based prospective screening of newborns differ from those observed in patients with clinical symptoms: Identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency [J].
Andresen, BS ;
Dobrowolski, SF ;
O'Reilly, L ;
Muenzer, J ;
McCandless, SE ;
Frazier, DM ;
Udvari, S ;
Bross, P ;
Knudsen, I ;
Banas, R ;
Chace, DH ;
Engel, P ;
Naylor, EW ;
Gregersen, N .
AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (06) :1408-1418
[2]  
Angelini C, 1996, CARNITINE - PATHOBIOCHEMICAL BASICS AND CLINICAL APPLICATIONS, P97
[3]  
*BOEHR MANNH, 1989, UV METH DET L CARN B
[4]   CARNITINE - DETERMINATION OF TOTAL CARNITINE USING A RADIOENZYMATIC ASSAY [J].
BORUM, PR .
JOURNAL OF NUTRITIONAL BIOCHEMISTRY, 1990, 1 (02) :111-114
[5]   PHARMACOKINETIC CONSIDERATIONS FOR THE THERAPEUTIC USE OF CARNITINE IN HEMODIALYSIS-PATIENTS [J].
BRASS, EP .
CLINICAL THERAPEUTICS, 1995, 17 (02) :176-185
[6]   CARNITINE DEFICIENCY SYNDROMES [J].
BRENINGSTALL, GN .
PEDIATRIC NEUROLOGY, 1990, 6 (02) :75-81
[7]   Direct analysis by electrospray ionization and matrix-assisted laser desorption ionization mass spectrometry of standard and urinary acylcarnitines - Comparison with fast atom bombardment and gas chromatography chemical ionization mass spectrometry [J].
Briand, G ;
Fontaine, M ;
Schubert, R ;
Ricart, G ;
Degand, P ;
Vamecq, J .
JOURNAL OF MASS SPECTROMETRY, 1995, 30 (12) :1731-1741
[8]  
CARTER CJ, 1986, CLIN ASPECTS HUMAN C, P50
[9]   METHOD FOR DETERMINATION OF CARNITINE IN PICOMOLE RANGE [J].
CEDERBLA.G ;
LINDSTED.S .
CLINICA CHIMICA ACTA, 1972, 37 (NMAR) :235-&
[10]   Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns [J].
Chace, DH ;
Kalas, TA ;
Naylor, EW .
CLINICAL CHEMISTRY, 2003, 49 (11) :1797-1817