Tandem mass spectrometric determination of malonyl-carnitine: Diagnosis and neonatal screening of malonyl-CoA decarboxylase deficiency

Clinical Chemistry

Volumn 49, Issue 4, 2003, Pages 660-662

  Santer, René ^a   Fingerhut, Ralph ^b   Lässker, Uta ^a   Wightman, Patrick J ^c   Fitzpatrick, David R ^c   Olgemöller, Bernhard ^b   Roscher, Adelbert A ^d  

^a UNIVERSITY OF KIEL   (Germany)

^b Laboratory Becker   (Germany)

^c WESTERN GENERAL HOSPITAL   (United Kingdom)

^d LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLCARNITINE; CARBOXYLYASE; CARNITINE; CARNITINE DERIVATIVE; MALONIC ACID; MALONYL COENZYME A; MALONYLCARNITINE; UNCLASSIFIED DRUG;

ACCURACY; ACIDURIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOOD LEVEL; BLOOD SAMPLING; CASE REPORT; CELLULAR DISTRIBUTION; CLINICAL FEATURE; CONTROLLED STUDY; ENZYME DEFICIENCY; FEMALE; FOLLOW UP; GAS CHROMATOGRAPHY; GENE EXPRESSION; GENE MUTATION; GENETIC HETEROGENEITY; HUMAN; INFANT; MALONYL COENZYME A DECARBOXYLASE DEFICIENCY; MASS SPECTROMETRY; NEWBORN SCREENING; PRESCHOOL CHILD; REGRESSION ANALYSIS; RELIABILITY; SENSITIVITY AND SPECIFICITY; TANDEM MASS SPECTROMETRY; TECHNIQUE;

CARBOXY-LYASES; CARNITINE; CHILD, PRESCHOOL; HUMANS; INFANT; INFANT, NEWBORN; NEONATAL SCREENING; REFERENCE VALUES; SPECTROMETRY, MASS, ELECTROSPRAY IONIZATION;

EID: 0037381036     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/49.4.660     Document Type: Article

References (13)

1. Brown GK, Scholem RD, Bankier A, Danks, DM. Malonyl coenzyme A decarboxylase deficiency. J Inherit Metab Dis 1984;7:21-6.
2. Haan EA, Scholem RD, Croll HB, Brown GK. Malonyl coenzyme A decarboxylase deficiency. Clinical and biochemical findings in a second child with a more severe enzyme defect. Eur J Pediatr 1986;144:567-70.
3. MacPhee GB, Logan RW, Mitchell JS, Howells DW, Tsotsis E, Thorburn DR. Malonyl coenzyme A decarboxylase deficiency. Arch Dis Child 1993;69:433-6.
4. Matalon R, Michaels K, Kaul R, Whitman V, Rodriguez-Novo J, Goodman S, et al. Malonic aciduria and cardiomyopathy. J Inherit Metab Dis 1993;16:571-3.
5. Krawinkel MB, Oldigs HD, Santer R, Lehnert W, Wendel U, Schaub J. Association of malonyl-CoA decarboxylase deficiency and heterozygote state for haemoglobin C disease. J Inherit Metab Dis 1994;17:636-7.
6. Yano S, Sweetman L, Thorburn DR, Mofidi S, Williams JC. A new case of malonyl coenzyme A decarboxylase deficiency presenting with cardiomyopathy. Eur J Pediatr 1997;156:382-3.
7. Henderson MJ, Evans CE, Kumar V, Pourfazam M. Malonic aciduria presenting with developmental delay, malonyl carnitine increased in bloodspots [Abstract]. J Inherit Metab Dis 1998;21(Suppl 2):53.
8. Gao J, Waber L, Bennett MJ, Gibson KM, Cohen JC. Cloning and mutational analysis of human malonyl-coenzyme A decarboxylase. J Lipid Res 1999;40:178-82.
9. Sacksteder KA, Morrell JC, Wanders RJ, Matalon R, Gould SJ. MCD encodes peroxisomal and cytoplasmic forms of malonyl-CoA decarboxylase and is mutated in malonyl-CoA decarboxylase deficiency. J Biol Chem 1999;274:24461-8.
10. FitzPatrick DR, Hill A, Tolmie JL, Thorburn DR, Christodoulou J. The molecular basis of malonyl-CoA decarboxylase deficiency. Am J Hum Genet 1999;65:318-26.
11. Surendran S, Sacksteder KA, Gould SJ, Coldwell JG, Rady PL, Tyring SK, et al. Malonyl CoA decarboxylase deficiency: C to T transition in intron 2 of the MCD gene. J Neurosci Res 2001;65:591-4.
12. Rolinski B, Arnecke R, Dame T, Kreischer J, Olgemöller B, Wolf E, et al. The biochemical metabolite screen in the Munich ENU mouse mutagenesis project: determination of amino acids and acylcarnitines by tandem mass spectrometry. Mamm Genome 2000;11:547-51.
13. Pourfarzam M, Morris A, Appleton M, Craft A, Bartlett K. Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency. Lancet 2001;358:1063-4.