Primary Hyperoxaluria

1997 ◽  
pp. 143-159
Author(s):  
R.W.E. Watts
Keyword(s):  
Primary Hyperoxaluria

Generation of a mouse model of Primary Hyperoxaluria Type 1 via CRISPR/Cas9 mediated gene editing

2019 ◽  
pp. 28-39
Author(s):  
Kimberly Coughlan ◽  
Rajanikanth Maganti ◽  
Andrea Frassetto ◽  
Christine DeAntonis ◽  
Meredith Wolfrom ◽  
...  
Keyword(s):  
Mouse Model ◽  
Gene Editing ◽  
Primary Hyperoxaluria ◽  
Primary Hyperoxaluria Type 1 ◽  
Primary Hyperoxaluria Type ◽  
Hyperoxaluria Type

Metabolism of Oxalate in Humans: A Potential Role Kynurenine Aminotransferase/Glutamine Transaminase/Cysteine Conjugate Betalyase Plays in Hyperoxaluria

2019 ◽  
Vol 26 (26) ◽  
pp. 4944-4963 ◽  
Author(s):  
Qian Han ◽  
Cihan Yang ◽  
Jun Lu ◽  
Yinai Zhang ◽  
Jianyong Li
Keyword(s):  
Cellular Localization ◽  
Structural Characteristics ◽  
Gene Mutations ◽  
Primary Hyperoxaluria ◽  
Glycolate Oxidase ◽  
Kynurenine Aminotransferase ◽  
Underlying Mechanisms ◽  
Urinary Oxalate Excretion ◽  
Glyoxylate Aminotransferase ◽  
Oxalate Metabolism

Hyperoxaluria, excessive urinary oxalate excretion, is a significant health problem worldwide. Disrupted oxalate metabolism has been implicated in hyperoxaluria and accordingly, an enzymatic disturbance in oxalate biosynthesis can result in the primary hyperoxaluria. Alanine-glyoxylate aminotransferase-1 and glyoxylate reductase, the enzymes involving glyoxylate (precursor for oxalate) metabolism, have been related to primary hyperoxalurias. Some studies suggest that other enzymes such as glycolate oxidase and alanine-glyoxylate aminotransferase-2 might be associated with primary hyperoxaluria as well, but evidence of a definitive link is not strong between the clinical cases and gene mutations. There are still some idiopathic hyperoxalurias, which require a further study for the etiologies. Some aminotransferases, particularly kynurenine aminotransferases, can convert glyoxylate to glycine. Based on biochemical and structural characteristics, expression level, and subcellular localization of some aminotransferases, a number of them appear able to catalyze the transamination of glyoxylate to glycine more efficiently than alanine glyoxylate aminotransferase-1. The aim of this minireview is to explore other undermining causes of primary hyperoxaluria and stimulate research toward achieving a comprehensive understanding of underlying mechanisms leading to the disease. Herein, we reviewed all aminotransferases in the liver for their functions in glyoxylate metabolism. Particularly, kynurenine aminotransferase-I and III were carefully discussed regarding their biochemical and structural characteristics, cellular localization, and enzyme inhibition. Kynurenine aminotransferase-III is, so far, the most efficient putative mitochondrial enzyme to transaminate glyoxylate to glycine in mammalian livers, which might be an interesting enzyme to look for in hyperoxaluria etiology of primary hyperoxaluria and should be carefully investigated for its involvement in oxalate metabolism.

scholarly journals Rescue Thrombectomy for Early Hepatic Artery Thrombosis Using Stent Retriever in a Child Post Combined Deceased Donor Liver and Renal Transplant

2021 ◽  
Author(s):  
Manish Kumar Yadav ◽  
Madhavan Unni ◽  
U T Shabeer Ali ◽  
Shiraz Ahmed Rather ◽  
B Venugopal
Keyword(s):  
Renal Transplant ◽  
Hepatic Artery ◽  
Primary Hyperoxaluria ◽  
Deceased Donor ◽  
Stent Retriever ◽  
Hepatic Artery Thrombosis ◽  
Donor Liver ◽  
Post Intervention ◽  
Artery Thrombosis ◽  
Tissue Plasminogen

AbstractWe report this case of a 5-year-old child post combined liver and renal transplant for primary hyperoxaluria. Patient developed hepatic artery thrombosis on day 3 posttransplant that was managed by reexploration and reanastomosis of the hepatic artery. On day 4, the patient again developed hepatic artery thrombosis that failed to revascularize by surgical exploration and reanastomosis. Tissue plasminogen activator was injected into the hepatic artery intraoperatively to lyse any clot; however, no revascularization could be achieved. Subsequently, catheter angiogram confirmed no flow in the hepatic artery. A4 × 22 mm revive stent retriever was deployed across the site of occlusion and retrieved after 5 minutes of indwell time. Two such passes were made and complete recanalization of the hepatic artery was achieved. The hepatic artery remained patent as confirmed on serial Doppler images post intervention.

scholarly journals POS-111 I244T MUTATION IN PRIMARY HYPEROXALURIA TYPE 1: A MUTATION WITH ATYPICAL COURSE

2021 ◽  
Vol 6 (4) ◽  
pp. S46
Author(s):  
R. DAHMANE ◽  
S. Mrabet ◽  
N. Thabet ◽  
D. Zallema ◽  
W. Sahtout ◽  
...  
Keyword(s):  
Primary Hyperoxaluria ◽  
Primary Hyperoxaluria Type 1 ◽  
Primary Hyperoxaluria Type ◽  
Hyperoxaluria Type
Sign in / Sign up

Export Citation Format

Share Document