期刊
CLINICAL KIDNEY JOURNAL
卷 15, 期 SUPPL 1, 页码 i4-i8出版社
OXFORD UNIV PRESS
DOI: 10.1093/ckj/sfab217
关键词
alanine:glyoxylate aminotransferase; glyoxylate; glycolate; kidney stones; oxalate; primary hyperoxaluria; urolithiasis
资金
- Alnylam Pharmaceuticals, Inc.
- National Institutes of Health [DK114332]
Primary hyperoxaluria type 1 (PH1) is a rare genetic disease caused by a deficiency in a liver-specific enzyme, leading to excessive oxalate synthesis and resulting in kidney stone disease and other severe complications.
Primary hyperoxaluria type 1 (PH1) is a rare genetic form of calcium oxalate kidney stone disease. It is caused by a deficiency in the liver-specific enzyme, alanine:glyoxylate aminotransferase (AGT), a pyridoxal-5 '-phosphate (PLP)-dependent enzyme involved in the metabolism of glyoxylate. The excessive endogenous synthesis of oxalate that ensues leads to hyperoxaluria, and the crystallization of the poorly soluble calcium salt of oxalate is responsible for a severe kidney stone disease, which can progress to end-stage renal disease, systemic deposition of oxalate and death. Knowledge about metabolic precursors of glyoxylate and oxalate, molecular pathology of AGT and analytical methods for diagnosis and clinical assessment have allowed a better understanding of the mechanisms underlying PH1 and opened the door to new therapeutic strategies.
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