Reliability of biochemical parameters used in prenatal diagnosis of combined methylmalonic aciduria and homocystinuria.
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 [14C] propionate (+/- OHCbl) and the synthesis of cobalamin derivatives in cultured amniocytes were investigated as well as the [14C] 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 [14C] propionate incorporation and that of cobalamin synthesis in cultured amniocytes are useful to confirm the results of metabolite determination. The incorporation of [14C] MTHF in intact chorion biopsy seems not to be a reliable diagnostic method.
Merinero
B
B
Departamento Biología Molecular, Universidad Autónoma de Madrid, Spain.
Pérez-Cerdá
C
C
Garcia
M J
MJ
Chadefaux-Vekemans
B
B
Kamoun
P
P
Tonetti
C
C
Zittoun
J
J
Jakobs
C
C
Ugarte
M
M
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis*; D000649:Amniocentesis; D000653:Amniotic Fluid / Q000737:chemistry; D002478:Cells, Cultured; D002823:Chorion / Q000378:metabolism; D015193:Chorionic Villi Sampling; D003038:Cobamides / Q000096:biosynthesis; D005260:Female; D005865:Gestational Age; D006710:Homocysteine / Q000032:analysis; D006712:Homocystinuria / Q000175:diagnosis*; D006801:Humans; D008297:Male; D008764:Methylmalonic Acid / Q000032:analysis / Q000652:urine*; D011247:Pregnancy; D011422:Propionates / Q000378:metabolism; D013763:Tetrahydrofolates / Q000378:metabolism; D014805:Vitamin B 12 / Q000031:analogs & derivatives / Q000096:biosynthesis
D003038:Cobamides; D011422:Propionates; D013763:Tetrahydrofolates; D006710:Homocysteine; D008764:Methylmalonic Acid; C019476:mecobalamin; C000913:cobamamide; C029658:propionic acid; D014805:Vitamin B 12; C005984:5-methyltetrahydrofolate