原发性高草酸尿
生物
遗传学
基因
丙氨酸转氨酶
肾
内分泌学
作者
Somayya Naguib,Lamiaa A. Mansour,Neveen A. Soliman,Hadeel M. El-Hanafy,Yosra A. Fahmy,Mohamed A. Elmonem,Radwa Marawan Abdel Halim
出处
期刊:Genetic Testing and Molecular Biomarkers
[Mary Ann Liebert]
日期:2024-04-01
卷期号:28 (4): 151-158
被引量:1
标识
DOI:10.1089/gtmb.2023.0525
摘要
Introduction: Approximately 80% of primary hyperoxaluria cases are caused by primary hyperoxaluria type 1 (PH1, OMIM# 259900), which is characterized by pathogenic variants in the AGXT gene, resulting in deficiency of the liver-specific enzyme alanine-glyoxylate aminotransferase (AGT). This leads to increased production of oxalate, which cannot be effectively eliminated from the body, resulting in its accumulation primarily in the kidneys and other organs.
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