Identification of undescribed medium-chain acylcarnitines present in urine of patients with propionic and methylmalonic acidemias

Clinica Chimica Acta

Volumn 295, Issue 1-2, 2000, Pages 87-96

  Libert, Raymond ^a   Van Hoof, François ^a   Thillaye, Marc ^a   Vincent, Marie Françoise ^a   Nassogne, Marie Cécile ^a   De Hoffmann, Edmond ^b   Schanck, Andre ^b  

^a Dept Biol Clin Cliniques U   (Belgium)

^b UNIVERSITÉ CATHOLIQUE DE LOUVAIN   (Belgium)

Author keywords

Acylcarnitines; Methylmalonic acidemia; Propionyl CoA carboxylase deficiency

Indexed keywords

ACYLCARNITINE; CYANOCOBALAMIN; FATTY ACID ESTER; HYDRACRYLIC ACID; METHYLCITRIC ACID; PROPIONYL COENZYME A CARBOXYLASE; PROPIONYLGLYCINE; TIGLYLGLYCINE; UNCLASSIFIED DRUG;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME DEFICIENCY; GAS CHROMATOGRAPHY; HUMAN; HUMAN TISSUE; LACTIC ACIDOSIS; MALE; MASS SPECTROMETRY; METHYLMALONIC ACIDEMIA; PRESCHOOL CHILD; PRIORITY JOURNAL; PROPIONIC ACIDEMIA; URINALYSIS;

ADULT; CARBOXY-LYASES; CARNITINE; CASE-CONTROL STUDIES; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; HUMANS; INFANT; LIPID METABOLISM, INBORN ERRORS; MALE; METHYLMALONIC ACID; METHYLMALONYL-COA DECARBOXYLASE; PROPIONIC ACIDS; SPECTROMETRY, MASS, FAST ATOM BOMBARDMENT;

EID: 0034126023     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0009-8981(00)00195-9     Document Type: Article

References (13)

1. Libert R., Van Hoof F., Thillaye M., et al. Identification of new medium-chain acylcarnitines present in normal human urine. Anal Biochem. 251:1997;196-205.
2. Libert R., Van Hoof F., Thillaye M., et al. Identification of new medium-chain acylcarnitines in urine of a patient with medium-chain acyl-CoA dehydrogenase deficiency. J Inher Metab Dis. 22:1999;9-18.
3. Fenton W.A., Rosenberg L.E. Disorders of propionate and methylmalonate metabolism. Scriver C.R., Beaudet A.L., Sly W.S., Valle D. The metabolic and molecular bases of inherited disease. 7th ed :1995;1518 McGraw-Hill, New-York.
4. Blom W., Polder-Mol A.C.B., Kelholt-Dukman H.H., et al. The detection of abnormal metabolites in MCAD deficiency: a new method. J Inher Metab Dis. 13:1990;315-320.
5. Duran M., Ketting D., van Vossen R., et al. Octanoylglucuronide excretion in patients with a defective oxidation of medium-chain fatty acids. Clin Chim Acta. 152:1985;253-260.
6. Marsh J. Dehydration of alcohols. In: Advanced organic chemistry, 4th ed. New York: Wiley Interscience, 1992:1011.
7. Niwa T. Mass spectrometry in disorders of organic acid metabolism. Clin Chim Acta. 241-242:1995;293-384.
8. de Hoffmann E, Charette J, Stroobant V. Fragmentation reactions. In: Masson, editor. Mass Spectrometry. Principles and applications. New York: J. Wiley and Sons, 1996:196.
9. Rashed M.S., Ozand P.T., Bucknall M.P., et al. Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry. Ped Res. 38:1995;324-331.
10. Milington D.S., Roe C.R., Maltby D.A. Application of high resolution fast atom bombardment and constant B/E ratio linked scanning to the identification and analysis of acylcarnitines in metabolic disease. Biom Mass Spectrom. 11:1984;236-241.
11. Morrow R.J., Rose M.E. Isolation of acylcarnitines from urine: a comparison of methods and application to long-chain acyl-CoA dehydrogenase deficiency. Clin Chim Acta. 211:1992;73-81.
12. Smith S. The animal fatty acid synthase: one gene, one polypeptide, seven enzymes. FASEB J. 8:1994;1248-1259.
13. Steinberg D. Refsum disease. Scriver C.R., Beaudet A.L., Sly W.S., Valle D. The metabolic and molecular bases of inherited disease. 1995;2351 McGraw-Hill, New York.