Mutations in DHDPSL Are Responsible For Primary Hyperoxaluria Type III
نویسندگان
چکیده
منابع مشابه
Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis.
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, & MEASUREMEN...
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متن کاملThe enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type III
During the last years, the group of patients with the typical clinical signs of primary hyperoxaluria (PH), but negative diagnostic results for the two types of PH known up till then has grown increasingly larger [1, 2]. It was, however, always obvious that the dramatic clinical course of most of these patients with unclassified hyperoxaluria, e.g. recurrent calcium-oxalate (CaOx) kidney stones...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2010
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2010.07.023