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USE OF AMNIOTIC FLUID AMINO ACIDS IN PRENATAL TESTING FOR ARGININOSUCCINIC ACIDURIA AND CITRULLINAEMIA
Author(s) -
MANDELL ROSEANN,
PACKMAN SEYMOUR,
LAFRAMBOISE RACHEL,
GOLBUS MITCHELL S.,
SCHMIDT KATHLEEN,
WORKMAN LAURA,
SAUDUBRAY J. M.,
SHIH VIVIAN E.
Publication year - 1996
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(199605)16:5<419::aid-pd872>3.0.co;2-7
Subject(s) - amniotic fluid , argininosuccinate lyase , argininosuccinate synthase , citrullinemia , prenatal diagnosis , medicine , citrulline , fetus , pregnancy , arginine , chemistry , biology , biochemistry , arginase , amino acid , genetics
Prenatal testing of 12 pregnancies at risk for argininosuccinic aciduria due to argininosuccinate lyase (ASAL) deficiency and three pregnancies at risk for citrullinaemia due to argininosuccinate synthatase (ASAS) deficiency was performed by metabolite detection in amniotic fluid and measurement of enzyme activity in uncultured and cultured chorionic tissue and in cultured amniocytes. From our data and those of previous studies, amniotic fluid argininosuccinate measurement alone is clearly a reliable and rapid diagnostic test for both severe and mild ASAL deficiency if maternal ASAL deficiency can be excluded. For prenatal diagnosis of ASAS deficiency, however, both measurement of the amniotic fluid citrulline level and enzyme assay should be employed.