The antenatal diagnosis and aid to the management of hereditary tyrosinaemia by use of a specific and sensitive GC-MS assay for succinylacetone.
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis / Q000378:metabolism*; D000653:Amniotic Fluid / Q000032:analysis; D005260:Female; D008401:Gas Chromatography-Mass Spectrometry; D006537:Heptanoates / Q000032:analysis*; D006538:Heptanoic Acids / Q000032:analysis*; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014443:Tyrosine / Q000097:blood*
D006537:Heptanoates; D006538:Heptanoic Acids; D014443:Tyrosine; C020804:succinylacetone