Hope for patients with primary hyperoxaluria type 1
Primary hyperoxaluria type 1 (PH1) is an autosomal recessive inherited disorder that begins in childhood and adolescence. Various defects in the enzyme alanine-glyoxylate aminotransferase cause an overproduction of oxalate in the liver, which is excreted in the urine (hyperoxaluria). It leads to the formation of recurrent kidney stones, renal calcification (nephrocalcinosis) and kidney injury, even…
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