Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive metabolic disorder caused by a deficiency of the peroxisomal enzyme alanine-glyoxylate aminotransferase. This deficiency results in an overproduction of oxalate by the liver. Excess oxalate leads to urolithiasis, nephrocalcinosis, and renal failure. Additionally, end-stage kidney disease (ESKD) occurs in approximately 50% of adults diagnosed with this condition. Presently, combined liver and renal transplant is the only curative option.
How familiar are you with PH1? Test your knowledge with this quick quiz.
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Cite this: Bradley Schwartz. Fast Five Quiz: Primary Hyperoxaluria Type 1 - Medscape - Mar 04, 2022.