OMIA 000060-9940 : Argininaemia in Ovis aries

Possibly relevant human trait(s) and/or gene(s) (MIM number): 207800

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

Cross-species summary: Deficiency of the enzyme arginase in red blood cells. The enzyme's normal task is to convert arginine to ornithine and urea

Species-specific description: Homozygotes for the deficiency have zero levels of arginase; heterozygotes appear to have somewhat lower levels than homozygote normals (Wright et al., 1977). In contrast to humans, deficient sheep show no clinical signs, despite having elevated levels of arginine in red blood cells.

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
1985 Rabenstein, D.L., Young, J.D., Wolowyk, M.W., Razi, M.T., Arnold, A.P., Tucker, E.M. :
Characterization of normal, glutathione-deficient and arginase-deficient sheep erythrocytes by 1H-NMR spectroscopy. Biochim Biophys Acta 846:200-7, 1985. Pubmed reference: 2862919.
1977 Tucker, E.M., Wright, P.C., Young, J.D. :
Influence of arginase deficiency on amino acid concentrations in sheep erythrocytes with a normal and with a defective transport system for amino acids [proceedings]. J Physiol 271:47P-48P, 1977. Pubmed reference: 925998.
Wright, PC, Young, JD, Mangan, JL, Tucker, EM :
An inherited arginase deficiency in sheep erythrocytes Journal of Agricultural Science 88:765-767, 1977.

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  • Created by Frank Nicholas on 06 Sep 2005