Prenatal exclusion of the HHH syndrome.
Prenatal diagnosis of the hyperornithinaemia, hyperammonaemia, and homocitrullinuria syndrome is described by the analysis of ornithine incorporation in second-trimester cultured amniotic fluid cells. An unaffected fetus was predicted and confirmed in the newborn child. This is the third reported prenatal diagnosis for this disorder and the second predicting an unaffected fetus.
Gray
R G
RG
Department of Clinical Chemistry, Children's Hospital, Birmingham, U.K.
Green
A
A
Hall
S
S
McKeown
C
C
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis*; D000641:Ammonia / Q000097:blood*; D000653:Amniotic Fluid / Q000166:cytology; D002478:Cells, Cultured; D002956:Citrulline / Q000031:analogs & derivatives* / Q000652:urine; D005260:Female; D006801:Humans; D009952:Ornithine / Q000097:blood / Q000378:metabolism*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013577:Syndrome
C001352:homocitrulline; D002956:Citrulline; D000641:Ammonia; D009952:Ornithine