Inherited inborn error of glyoxylate metabolism

Reference no: EM133689474

Question

Explanation of PH-1 is a rare, recessive, inherited inborn error of glyoxylate metabolism. It remains underdiagnosed because of the large variability in its clinical presentation and age of onset. For that, all patients with recurrent nephrocalcinosis or nephrolithiasis should be evaluated for PH-1.

Reference no: EM133689474

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