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Article

Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis.

Clinical journal of the American Society of Nephrology : CJASN - 1 Sept 2011

Monico Carla G, Rossetti Sandro, Belostotsky Ruth, Cogal Andrea G, Herges Regina M, Seide Barbara M, Olson Julie B, Bergstrahl Eric J, Williams Hugh J, Haley William E, Frishberg Yaacov, Milliner Dawn S

Abstract excerpt

BACKGROUND AND OBJECTIVES: Primary hyperoxaluria types I and II (PHI and PHII) are rare monogenic causes of hyperoxaluria and calcium oxalate urolithiasis. Recently, we described type III, due to mutations in HOGA1 (formerly DHDPSL), hypothesized to cause a gain of mitochondrial 4-hydroxy-2-oxoglutarate aldolase activity, resulting in excess oxalate. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: To further...

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Share to Genetic Predisposition to Disease
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 21896830
DOI: 10.2215/CJN.02760311
PMCID: PMC3358997

Genes

HOGA1

Provenance

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