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Hereditary disorders of the urea cycle in man: Biochemical and molecular approaches

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Reviews of Physiology, Biochemistry and Pharmacology, Volume 108

Part of the book series: Reviews of Physiology, Biochemistry and Pharmacology ((REVIEWS,volume 108))

Abstract

Since H.A. Krebs, many studies have been carried out on the urea cycle, its enzymes, and their deficiencies in man. This paper has reviewed biochemical and molecular research on this subject to date. By now, all of the urea cycle enzymes other than N-acetylglutamate synthetase have been purified to homogeneity from human liver and characterized in detail. Clones of cDNA for all the enzymes have been isolated. Primary amino acid sequences of OTC, ASS, and arginase have been deduced from their cDNA nucleotide sequences. RFLPs were found in the gene loci of CPS, OTC, and ASS.

These results may enable us to clarify the pathogenesis of urea cycle enzyme deficiencies at the molecular level, and may offer new therapeutic procedures, including gene therapy. Research on the organ-specific enzyme defects seen in citrullinemia, argininosuccinic aciduria, and probably argininemia may give us some insights into organ-specific gene expression in general.

On the other hand, the characterization of membrane transport proteins is still in the early stages. Purification of the membrane proteins may be necessary for further research.

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  1. Department of Biochemistry, Faculty of Medicine, Kagoshima University, 890, Kagoshima, Japan

    Takeyori Saheki, Keiko Kobayashi & Ituro Inoue

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Saheki, T., Kobayashi, K., Inoue, I. (1987). Hereditary disorders of the urea cycle in man: Biochemical and molecular approaches. In: Reviews of Physiology, Biochemistry and Pharmacology, Volume 108. Reviews of Physiology, Biochemistry and Pharmacology, vol 108. Springer, Berlin, Heidelberg. https://doi.org/10.1007/BFb0034071

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