Reliability of biochemical parameters used in prenatal diagnosis of combined methylmalonic aciduria and homocystinuria

Prenatal Diagnosis

Volumn 18, Issue 9, 1998, Pages 947-952

  Merinero, B ^a   Perez Cerda C ^a   Garcia, M J ^a   Chadefaux Vekemans, B ^b   Kamoun, P ^b   Tonetti, C ^c   Zittoun, J ^c   Jakobs, C ^d   Ugarte, M ^a  

^a UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c HENRI MONDOR HOSPITAL   (France)

^d VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Amniotic fluid; Cobalamin deficiency; Methylmalonic aciduria with homocystinuria; Prenatal diagnosis; Total homocysteine

Indexed keywords

COBALAMIN; COBALAMIN DERIVATIVE; HOMOCYSTEINE; METHYLMALONIC ACID; PROPIONIC ACID;

AMNION CELL; AMNION FLUID; ARTICLE; CASE REPORT; CELL CULTURE; CHORION VILLUS SAMPLING; FEMALE; FETUS; HOMOCYSTINURIA; HUMAN; HUMAN CELL; ISOTOPE LABELING; MALE; METHYLMALONIC ACIDURIA; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RELIABILITY; SUPERNATANT;

AMINO ACID METABOLISM, INBORN ERRORS; AMNIOCENTESIS; AMNIOTIC FLUID; CELLS, CULTURED; CHORION; CHORIONIC VILLI SAMPLING; COBAMIDES; FEMALE; GESTATIONAL AGE; HOMOCYSTEINE; HOMOCYSTINURIA; HUMANS; MALE; METHYLMALONIC ACID; PREGNANCY; PROPIONIC ACIDS; TETRAHYDROFOLATES; VITAMIN B 12;

EID: 0031755868     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199809)18:9<947::AID-PD363>3.0.CO;2-L     Document Type: Article

References (17)

1. Caruso, U., Jakobs, C., Di Rocco, M., Borrone, C., Romano, C. (1994). Prenatal diagnosis of cobalamin metabolism defect by measurement of metabolites in amniotic fluid, Abstract of VI International Congress Inborn Errors of Metabolism, Milano: Editrice C. S. H., w 7.10, 82.
2. Chadefaux, B., Coude, M., Aupetit, J., Kamoun, P. (1989). A rapid method for the determination of total homocysteine in plasma, Clin. Chem., 35, 2002.
3. Chadefaux-Vekemans, B., Rolland, M.O., Lyonnet, S., Rabier, D., Divry, P., Kamoun, P. (1994). Prenatal diagnosis of combined methylmalonic aciduria and homocystinuria (cobalamin CblC or CblD mutant), Prenat. Diagn., 14, 417-418.
4. Coude, M., Chadefaux, B., Rabier, D., Kamoun, P. (1990). Early amniocentesis and amniotic fluid organic acid levels in the prenatal diagnosis of organic acidemias, Clin. Chim. Acta, 187, 329-332.
5. Fenton, W.A., Rosenberg, L.E. (1995). Inherited disorders of cobalamin transport and metabolism. In: Scriver, C.R., Beaudet, A.L., Sly, W.S., Valle, D. (Eds). The Metabolic and Molecular Bases of Inherited Disease, vol. II, New York: McGraw-Hill, Inc., 3129-3149.
6. Fowler, B., Giles, L., Sardharwalla, I.B., Donnai, P., Clayton, J.K. (1988). First trimester diagnosis of methylmalonic aciduria, Prenat. Diagn., 8, 207-213.
7. Jakobs, C., ten Brink, H. J., Stellaard, F. (1990). Prenatal diagnosis of inherited metabolic disorders by quantitation of characteristic metabolites in amniotic fluid: facts and future, Prenat. Diagn., 10, 265-271.
8. Jakobs, C. (1994). Antenatal diagnosis of inherited metabolic disorders using gas chromatography-mass spectrometry. In: Farriaux, J.P., Dhondt, J.L. (Eds). New Horizons in Neonatal Screening, Amsterdam: Elsevier Science B.V., 357-364.
9. Kamoun, P., Chadefaux, B. (1991). Eleventh week amniocentesis for prenatal diagnosis of some metabolic diseases, Prenat. Diagn., 11, 691-696.
10. Mahoney, M.J., Rosenberg, L.E. (1971). Synthesis of cobalamin coenzyme by human cells in tissue culture, J. Lab. Clin. Med., 78, 302-308.
11. Mellman, I., Willard, H.F., Rosenberg, L.E. (1978). Cobalamin binding and cobalamin dependent enzyme activity in normal and mutant human fibroblasts, J. Clin. Invest., 62, 952-960.
12. Mellman, I., Willard, H.F., Young-Turner, P., Rosenberg, L.E. (1979). Cobalamin coenzymes synthesis in normal and mutant human fibroblasts, J. Biol. Chem., 254, 11 847-11 853.
13. Pérez-Cerdá, C., Merinero, B., Sanz, P., Jiménez, A., Garcia, M.J., Urbón, A., Díaz Recasens, J., Ramos, C., Ayuso, C., Ugarte, M. (1989). Successful first trimester diagnosis in a pregnancy at risk for propionic acidemia, J. Inher. Metab. Dis., 12, 274-276.
14. Rosenblatt, D.S. (1994). Inborn errors of vitamin B12 metabolism: clinical and genetic heterogeneity, Internat. Pediatr., 9, 209-213.
15. Rosenblatt, D.S., Aspler, A.L., Shewell, M.I., Pletcher, B.A., Fenton, W.A., Seashoer, M.R. (1997). Clinical heterogeneity and prognosis in combined MMA and homocystinuria (CblC), J. Inher. Metab. Dis., 20, 528-538.
16. Ubbink, J.B., Vermack, W.H.J., Bissbort, S. (1991). Rapid high performance liquid chromatographic assay for total homocysteine levels in human serum, J. Chromatogr., 565, 441-446.
17. Vimal, C.M., Fensom, A.H., Heaton, D., Ward, R.H.T., Garrod, P., Penketh, R.J.A. (1984). Prenatal diagnosis of argininosuccinicaciduria by analysis of cultured chorionic villi, Lancet, 2, 521-522.