Abstract
Primary hyperoxaluria type 1 (PH1; McKusick 25990) is an autosomal recessive inborn error of glyoxylate metabolism which leads to excessive synthesis of oxalate and glycolate. The low solubility of calcium oxalate causes all the pathological manifestations of the disease, namely urolithiasis, nephrocalcinosis and systemic oxalosis. Attempts to diagnose PH1 prenatally, by measuring oxalate and glycolate in amniotic fluid, have not been successful, presumably because the placental clearance of these metabolites from the fetal circulation is much greater than the renal clearance. Alternatively, it is possible that PH1 is not expressed metabolically in the fetus.
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References
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© 1989 SSIEM and Kluwer Academic Publishers
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Danpure, C.J., Cooper, P.J., Jennings, P.R., Wise, P.J., Penketh, R.J., Rodeck, C.H. (1989). Enzymatic Prenatal Diagnosis of Primary Hyperoxaluria Type 1: Potential and Limitations. In: Addison, G.M., Connor, J.M., Harkness, R.A., Pollitt, R.J. (eds) Studies in Inherited Metabolic Disease. Springer, Dordrecht. https://doi.org/10.1007/978-94-009-1069-0_29
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DOI: https://doi.org/10.1007/978-94-009-1069-0_29
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