Primary Hyperoxaluria occurs in defect in metabolism of

Primary Hyperoxaluria : increased excretion of oxalates is observed upto 600 mg/day ,compred to a normal of 50 mg /day .The oxaluria is due to increased production of oxaltes. It is an autosomal recessive trait. The disease is due to a protein targetting defect.Normally , the enzyme alanine glyoxalate amino transferase is located in hepatic peroxiomes :but in these patients the enzyme is present in mitochondria. This leads to increased pool size of glyoxalate ,and excess production of oxalate.Rnal depositionof oxalateswould cause nephrolithiasis,renal colic and hematuria.Extrarenal oxalosis may be seen in hea, blood vessels ,bone etc TYPE 2 primary hyperoxaluria is a milder condtion causing only urolithiasis and results from deficient activity of cytoplasmic glyoxalte oxidase. The pricipl of management is to increase oxalate excretion by increased water intake.Also try to minimize dietery intake of oxalates by restricting the intake of leafy vegetables,sesame seeds, tea ,cocoa,beetroot,spinach etc. in normal persons , oxalate can arise from Glyoxalate metabolism. from ingestion of leafy vegetables. from ascorbic acid degradation.The third source is minimal in human beings. REF : DM VASUDEVAN TEXTBOOK ,7TH EDITION ; Pageno :213