Prenatal diagnosis of propionic acidemia by measuring methylcitric acid in dried amniotic fluid on filter paper using GC/MS.
Propionic acidemia is a frequent inborn error of metabolism. Methylcitric acid, a key indicator of propionic acidemia, increases in the amniotic fluid of affected fetuses. For prenatal diagnosis, the methylcitric acid in amniotic fluid can be measured by stable-isotope dilution GC/MS. Here, we quantified this indicator in samples of amniotic fluid that had been dried on filter paper and transported at ambient temperatures, and compared the results with data obtained from the original amniotic fluid. We then used the filter-paper method to screen at-risk fetuses and obtained a clear-cut diagnosis in each case.
Inoue
Yoshito
Y
Division of Human Genetics, Medical Research Institute, Kanazawa Medical University, 1-1 Daigaku, Uchinada, Ishikawa 9200293, Japan. yosh@kanazawa-med.ac.jp
Ohse
Morimasa
M
Shinka
Toshihiro
T
Kuhara
Tomiko
T
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis*; D000653:Amniotic Fluid / Q000737:chemistry*; D002951:Citrates / Q000032:analysis*; D008401:Gas Chromatography-Mass Spectrometry / Q000379:methods*; D006801:Humans; D011296:Prenatal Diagnosis / Q000379:methods*; D011422:Propionates / Q000097:blood*
D002951:Citrates; D011422:Propionates; C031605:2-methylcitric acid