There are three types of primary hyperoxaluria (PH), a rare genetic metabolic disorder: PH1, PH2, and PH3. PH1 is the most common and results from a deficiency of the liver peroxisomal enzyme alanine-glyoxylate aminotransferase (AGT), which catalyzes the conversion of glyoxylate to glycine. The absence of AGT activity causes glyoxylate to be converted to oxalate, which forms insoluble calcium oxalate crystals.
Signs and symptoms of this disorder are variable, but patients are at risk for end-stage kidney disease (ESKD) and increased morbidity and mortality. At present, liver and renal transplant is the only curative option. Early identification and management are essential to improve prognosis in PH1.
How familiar are you with the signs and symptoms of PH1? Test your knowledge with this quick quiz.
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Cite this: Bradley Schwartz. Fast Five Quiz: Primary Hyperoxaluria Type 1 Signs and Symptoms - Medscape - Mar 04, 2022.