Deficiency of Peroxisomal Alanine: Glyoxylate Aminotransferase in Primary Hyperoxaluria Type 1
The activity of alanine:glyoxylate aminotransferase (AGT) in the livers of two patients with primary hyperoxaluria type 1 (PH) was substantially lower than that found in six control human livers. Detailed subcellular fractionation of a pyridoxine-resistant PH liver, compared with a control liver, showed that there was a complete absence of peroxisomal AGT. The residual AGT activity in the PH liver could not be enhanced in vitro by excess pyridoxal phosphate. Unlike a number of other peroxisomal disorders, PH appears to be due to a specific enzyme deficiency with no evidence of a generalized perturbation of peroxisomal function.
KeywordsCalcium Oxalate Autosomal Recessive Disease Pyridoxal Phosphate Control Liver Primary Hyperoxaluria
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