Prenatal diagnosis of propionic acidemia.
In this report we summarize our experience in prenatal diagnosis of propionic acidemia (PA) since 1987. Overall, we have investigated 25 pregnancies at risk from 19 unrelated families. Until genetic structure of the genes involved in PA was elucidated, prenatal diagnosis has been successfully performed by means of metabolite quantitation and/or enzymatic assays in foetal issue. Today, direct propionyl-CoA carboxylase activity assay in combination with molecular analysis in chorion villi can be regarded as a fast and reliable method of choice for prenatal diagnosis of this organic acidemia.
Pérez-Cerdá
C
C
Centro de Diagnóstico de Enfermedades Moleculares, CBM-SO, Universidad Autónoma de Madrid, Spain.
Pérez
B
B
Merinero
B
B
Desviat
L R
LR
Rodríguez-Pombo
P
P
Ugarte
M
M
D000653:Amniotic Fluid / Q000166:cytology; D002478:Cells, Cultured; D002824:Chorionic Villi / Q000201:enzymology; D002867:Chromones; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics*; D043586:Methylmalonyl-CoA Decarboxylase / Q000235:genetics; D009154:Mutation; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D011422:Propionates / Q000097:blood*; D056693:Propionic Acidemia
D002867:Chromones; D011422:Propionates; C075943:6-propylchromone-2-carboxylic acid; D043586:Methylmalonyl-CoA Decarboxylase; C029658:propionic acid