A serine-to-phenylalanine substitution leads to loss of alanine: glyoxylate aminotransferase catalytic activity and immunoreactivity in a patient with primary hyperoxaluria type 1

The lethal autosomal recessive disease primary hyperoxaluria type 1 (PH1) is caused by a deficiency of the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT, EC 2.6.1.44). AGT is a homodimer of subunit molecular mass of 43 kDa and is encoded by a single gene located on chrom...

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