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

✍ Scribed by B. Merinero; C. Pérez-Cerdá; M. J. Garcia; B. Chadefaux-Vekemans; P. Kamoun; C. Tonetti; J. Zittoun; C. Jakobs; M. Ugarte

• Publisher: John Wiley and Sons
• Year: 1998
• Tongue: English
• Weight: 137 KB
• Volume: 18
• Category: Article
• ISSN: 0197-3851
• DOI: 10.1002/(sici)1097-0223(199809)18:9<947::aid-pd363>3.0.co;2-l

✦ Synopsis

Prenatal diagnosis for combined methylmalonic aciduria and homocystinuria was performed in five at-risk pregnancies by determination of methylmalonic acid (MMA) and total homocysteine (Hcy) in amniotic fluid supernatant. The incorporation rate of [ 14 C] propionate ( OHCbl) and the synthesis of cobalamin derivatives in cultured amniocytes were investigated as well as the [ 14 C] MTHF incorporation rate in intact chorion biopsy. Our experience showed that total Hcy and MMA were clearly elevated in amniotic fluid of affected fetuses. Both the study of [ 14 C] propionate incorporation and that of cobalamin synthesis in cultured amniocytes are useful to confirm the results of metabolite determination. The incorporation of [ 14 C] MTHF in intact chorion biopsy seems not to be a reliable diagnostic method. 1998 John Wiley & Sons, Ltd.