Premium
Reliability of biochemical parameters used in prenatal diagnosis of combined methylmalonic aciduria and homocystinuria
Author(s) -
Merinero B.,
PérezCerdá C.,
Garcia M. J.,
ChadefauxVekemans B.,
Kamoun P.,
Tonetti C.,
Zittoun J.,
Jakobs C.,
Ugarte M.
Publication year - 1998
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/(sici)1097-0223(199809)18:9<947::aid-pd363>3.0.co;2-l
Subject(s) - homocystinuria , methylmalonic acid , methylmalonic aciduria , cobalamin , amniotic fluid , methylmalonic acidemia , homocysteine , prenatal diagnosis , chemistry , medicine , endocrinology , biochemistry , fetus , vitamin b12 , pregnancy , methionine , biology , amino acid , genetics
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.