Studies on complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts

Hum Genet. 1981;57(3):282-4. doi: 10.1007/BF00278945.

Abstract

Complementation tests after polyethylene glycol fusion have been performed between 10 citrullinemic strains with argininosuccinate synthetase deficiency and between five strains with argininosuccinate lyase deficiency. No complementation was observed between the citrullinemic strains, while two groups of complementation were defined with the argininosuccinate lyase deficients strains. Since the restoration of activity was not total, we assumed that complementation is probably intragenic.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / genetics*
  • Arginine / analogs & derivatives*
  • Argininosuccinate Synthase / deficiency*
  • Argininosuccinic Acid / urine*
  • Argininosuccinic Aciduria*
  • Cell Line
  • Citrulline / blood*
  • Female
  • Fibroblasts / enzymology
  • Genetic Complementation Test*
  • Humans
  • Infant, Newborn
  • Infant, Newborn, Diseases / genetics*
  • Ligases / deficiency*
  • Lyases / deficiency*
  • Male
  • Polyethylene Glycols

Substances

  • Argininosuccinic Acid
  • Citrulline
  • Polyethylene Glycols
  • Arginine
  • Lyases
  • Ligases
  • Argininosuccinate Synthase