Argininosuccinic aciduria

Prenatal studies in a family at risk

L. D. Fleisher, D. K. Rassin, R. J. Desnick, H. R. Salwen, P. Rogers, M. Bean, G. E. Gaull

Research output: Contribution to journalArticle

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Abstract

We have monitored two successive pregnancies in a family which we found to be at risk for argininosuccinic aciduria. We measured argininosuccinic acid (ASA) concentrations in amniotic fluid and utilized an indirect assay of ASA lyase activity in cultured amniotic fluid cells. The assay procedure is based on the uptake of 14C from [ 14C]citrulline and of [ 3H]leucine into protein. ASA was easily measured in amniotic fluid from the first fetus at risk, whereas none was detectable in control fluids. Amniotic fluid cells cultured from this fetus had only 5.5% of control ASA lyase activity. The pregnancy was terminated, and hepatic ASA lyase activity in the fetus was shown to be about 1.3% of control values. In addition, eight fetal tissues were analyzed for ASA, and all had significant accumulation. ASA was not detected in amniotic fluid from the second fetus at risk, and ASA lyase activity in cultured cells was 80% of control activity. Enzymatic analysis of erythrocyte lysate confirmed the diagnosis of an unaffected child (ASA lyase = 46% of control) and indicated heterozygosity. Thus, we provide further evidence that argininosuccinic aciduria can be diagnosed successfully in utero by indirect assay of ASA lyase activity in cultured amniotic fluid cells. In addition, high amniotic fluid ASA concentrations provide strong adjunctive evidence for such a prenatal determination, and may prove to be sufficient for diagnosis.

Original languageEnglish (US)
Pages (from-to)439-445
Number of pages7
JournalAmerican Journal of Human Genetics
Volume31
Issue number4
StatePublished - 1979
Externally publishedYes

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Argininosuccinic Acid
Argininosuccinic Aciduria
Amniotic Fluid
Lyases
Fetus
Cultured Cells
Pregnancy
Citrulline

ASJC Scopus subject areas

  • Genetics

Cite this

Fleisher, L. D., Rassin, D. K., Desnick, R. J., Salwen, H. R., Rogers, P., Bean, M., & Gaull, G. E. (1979). Argininosuccinic aciduria: Prenatal studies in a family at risk. American Journal of Human Genetics, 31(4), 439-445.

Argininosuccinic aciduria : Prenatal studies in a family at risk. / Fleisher, L. D.; Rassin, D. K.; Desnick, R. J.; Salwen, H. R.; Rogers, P.; Bean, M.; Gaull, G. E.

In: American Journal of Human Genetics, Vol. 31, No. 4, 1979, p. 439-445.

Research output: Contribution to journalArticle

Fleisher, LD, Rassin, DK, Desnick, RJ, Salwen, HR, Rogers, P, Bean, M & Gaull, GE 1979, 'Argininosuccinic aciduria: Prenatal studies in a family at risk', American Journal of Human Genetics, vol. 31, no. 4, pp. 439-445.
Fleisher LD, Rassin DK, Desnick RJ, Salwen HR, Rogers P, Bean M et al. Argininosuccinic aciduria: Prenatal studies in a family at risk. American Journal of Human Genetics. 1979;31(4):439-445.
Fleisher, L. D. ; Rassin, D. K. ; Desnick, R. J. ; Salwen, H. R. ; Rogers, P. ; Bean, M. ; Gaull, G. E. / Argininosuccinic aciduria : Prenatal studies in a family at risk. In: American Journal of Human Genetics. 1979 ; Vol. 31, No. 4. pp. 439-445.
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