Molecular and Clinical Heterogeneity in Primary Hyperoxaluria Type 1

摘要: The autosomal recessive disease primary hyperoxaluria type 1(PH1) is caused by a functional deficiency of the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT). An analysis liver samples from 59 PH1 patients showed considerable heterogeneity at enzymic level. Approximately two thirds had zero AGT catalytic activity, whereas remaining one third activities that ranged 3% to 48% mean normal Two with activity also immunoreactive protein, while other third, together all detectable levels protein varied only few percent normal. All their in wrong intracellular compartment (ie, mitochondria). On hand, but inactive was correctly located within peroxisomes. This matched clinical level (eg, age onset, rate progression, renal failure, etc). No simple relationship found between hepatic and severity disease. It suggested lack might be responsible for broader pathological phenotype than classically associated PH1. possibility advanced some idiopathic oxalate stone owe predisposition formation AGT.