Abstract
Primary hyperoxaluria type 1 (PH1; McKusick 25990) is characterized by abnormal glyoxylate metabolism, which leads to excessive synthesis and excretion of oxalate and glycolate. The disease is caused by a deficiency of peroxisomal alanine: glyoxylate aminotransferase (AGT; EC 2.6.1.44) in the liver (Danpure and Jennings, 1986). The presentation of PHI is heterogeneous, not only with respect to the severity of the clinical symptoms and responsiveness to pyridoxine (Williams and Smith, 1983), but also in terms of residual AGT enzyme activity (Danpure et al., 1987) and the presence or absence of immunologically cross-reacting AGT protein (Wise et al., 1987).
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References
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Danpure, C.J., Jennings, P.R. (1988). Enzymatic Heterogeneity in Primary Hyperoxaluria Type 1 (Hepatic Peroxisomal Alanine: Glyoxylate Aminotransferase Deficiency). In: Pollitt, R.J., Harkness, R.A., Addison, G.M. (eds) Studies in Inherited Metabolic Disease. Springer, Dordrecht. https://doi.org/10.1007/978-94-009-1259-5_32
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DOI: https://doi.org/10.1007/978-94-009-1259-5_32
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