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Journal of Inherited Metabolic Disease

, Volume 3, Issue 1, pp 45–48 | Cite as

Argininosuccinic acid synthetase deficiency in a hamster cell line and its complementation of argininosuccinic aciduria human fibroblasts

  • A. González-Noriega
  • J. Verduzco
  • E. Prieto
  • A. Velázquez
Article

Abstract

Unlike normal human cells, cultured fibroblasts from patients with argininosuccinic aciduria cannot synthesize arginine from citrulline because they have a deficiency of argininosuccinic acid lyase (ASL). We have found that V79, a Chinese hamster cell line, cannot grow on citrulline. Although these cells show a normal uptake of citrulline and have levels of ASL comparable to a human cell line (HeLa) which can grow in citrulline-containing medium, V79 cells have less than 5% of the argininosuccinic acid synthetase (ASS) activity of HeLa and cannot convert citrulline to argininosuccinate and thence to arginine. When heterokaryocytes are formed between V79 and a human cell line derived from a patient with ASL deficiency, complementation takes place and citrulline is incorporated into cell protein, presumably after having been converted to arginine. This is the first time that a genetic defect of the urea cycle has been corrected in human cells.

Keywords

Urea Arginine Human Cell Human Fibroblast Citrulline 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© MTP Press Limited, International Medical Publishers 1980

Authors and Affiliations

  • A. González-Noriega
    • 1
  • J. Verduzco
    • 1
  • E. Prieto
    • 1
  • A. Velázquez
    • 1
  1. 1.Instituto de Investigaciones BiomédicasUniversidad National Autónoma de MéxicoMéxico 20, D. F.México

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