X-RAY CRYSTALLOGRAPHY (1.97 ANGSTROMS) OF 26-327 IN COMPLEX WITH PYRUVATE, SUBUNIT, ACTIVE SITE, MUTAGENESIS OF SER-77; ASN-78; TYR-140; TYR-168; LYS-196 AND SER-198, FUNCTION, CATALYTIC ACTIVITY
Study found that primary hyperoxaluria type 3 (PH3) was significantly diagnosed in Chinese children with urolithiasis. Nine novel HOGA1 mutations were identified in association with PH3 which provide a first-line investigation in Chinese PH3 patients. The eGFR was normal in all children with PH3. This finding contrasts with the early impairment of renal function in PH1 and PH2.
Results show that HOGA1 harboring mutations found in primary hyperoxaluria is thermally unstable and targeted for proteolytic degradation leading to an absolute loss of function.
Among the seven patients identified with HOGA1 mutations the median onset of clinical symptoms was 1.8 years. Five patients initially presented with urolithiasis and two other patients presented with urinary tract infection.
Our results strongly suggest HOGA1 as a major cause of PH indicate a greater genetic heterogeneity of hyperoxaluria and point to a favorable outcome of type III in the context of PH despite incomplete or absent biochemical remission
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