4-Hydroxyglutamate Is a Biomarker for Primary Hyperoxaluria Type 3

Pitt, James; Willis, Frank; Tzanakos, Nicholas; Belostotsky, Ruth; Frishberg, Yaacov

doi:10.1007/8904_2013_291

Cited by 18 publications

(11 citation statements)

References 12 publications

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“…However, kidney function is not adequately reported in most instances (64% of patients reported in the literature without data) but presumed normal. Between 2010 and 2019, 151 patients were reported (1-38 patients per paper), 5,6,9,10,19,20,[22][23][24][25][26]28,29,[35][36][37][38][39] and a proportion of these patients are included in this paper. Similar to our data, age of diagnosis/disease onset ranged from 1 month to 48 years of life.…”

Section: Discussionmentioning

confidence: 99%

A report from the European Hyperoxaluria Consortium (OxalEurope) Registry on a large cohort of patients with primary hyperoxaluria type 3

Martín-Higueras

Garrelfs²,

Groothoff³

et al. 2021

Kidney International

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Section: Discussionmentioning

confidence: 99%

A report from the European Hyperoxaluria Consortium (OxalEurope) Registry on a large cohort of patients with primary hyperoxaluria type 3

Martín-Higueras

Garrelfs²,

Groothoff³

et al. 2021

Kidney International

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“…For example, HOGA1 deficiency causes PH3 in humans by an unidentified mechanism, while Hoga1 deficiency presents with normal urinary oxalate in mice (Figure S10). 31, 32, 33, 34, 35, 36 AGT deficiency causes kidney stones in humans, yet frequently fails to induce CaOx deposition in mice without the administration of EG 26 . One of the best studied aspects of AGT is its subcellular localization in various organisms.…”

Section: Discussionmentioning

confidence: 99%

Specific Inhibition of Hepatic Lactate Dehydrogenase Reduces Oxalate Production in Mouse Models of Primary Hyperoxaluria

et al. 2018

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Primary hyperoxalurias (PHs) are autosomal recessive disorders caused by the overproduction of oxalate leading to calcium oxalate precipitation in the kidney and eventually to end-stage renal disease. One promising strategy to treat PHs is to reduce the hepatic production of oxalate through substrate reduction therapy by inhibiting liver-specific glycolate oxidase (GO), which controls the conversion of glycolate to glyoxylate, the proposed main precursor to oxalate. Alternatively, diminishing the amount of hepatic lactate dehydrogenase (LDH) expression, the proposed key enzyme responsible for converting glyoxylate to oxalate, should directly prevent the accumulation of oxalate in PH patients. Using RNAi, we provide the first in vivo evidence in mammals to support LDH as the key enzyme responsible for converting glyoxylate to oxalate. In addition, we demonstrate that reduction of hepatic LDH achieves efficient oxalate reduction and prevents calcium oxalate crystal deposition in genetically engineered mouse models of PH types 1 (PH1) and 2 (PH2), as well as in chemically induced PH mouse models. Repression of hepatic LDH in mice did not cause any acute elevation of circulating liver enzymes, lactate acidosis, or exertional myopathy, suggesting further evaluation of liver-specific inhibition of LDH as a potential approach for treating PH1 and PH2 is warranted.

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“…In this regard, 4-hydroxy-glutamate, an intermediate compound of hydroxyproline metabolism, was recently found to be elevated in PH3 patients due to HOGA1 enzymatic deficiency although a large cohort study would be needed to define its predictive value. 18,19…”

Section: Discussionmentioning

confidence: 99%

Late diagnosis of primary hyperoxaluria type III

et al. 2017

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We report the case of a 78-year-old patient with late diagnosis of hyperoxaluria type III (PH3). He developed renal failure after nephrectomy for clear cell papillary renal carcinoma and complained of recurrent urolithiasis for some 30 years, whose aetiology was never identified. Biochemical laboratory investigations of urine and urolithiasis composition revealed marked hyperoxaluria but normal concentrations of urinary glyceric and glycolic acid as well as stones of idiopathic calcium-oxalate appearance. Furthermore, the dietary survey showed excessive consumption of food supplements containing massive amounts of oxalate precursors. However, the persistence of excessive hyperoxaluria after his eating habits was changed leading us to perform molecular genetic testing. We found heterozygous mutations of the recently PH3-associated HOGA1 gene when sequencing PH genes. This is the first description of late diagnosis primary PH3 in a patient with several additional pro-lithogenic factors. This case illustrates the importance of undertaking a complete biological work-up to determine the aetiology of hyperoxaluria. This may reveal underdiagnosed primary hyperoxaluria, even in older patients.

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4-Hydroxyglutamate Is a Biomarker for Primary Hyperoxaluria Type 3

Cited by 18 publications

References 12 publications

A report from the European Hyperoxaluria Consortium (OxalEurope) Registry on a large cohort of patients with primary hyperoxaluria type 3

A report from the European Hyperoxaluria Consortium (OxalEurope) Registry on a large cohort of patients with primary hyperoxaluria type 3

Specific Inhibition of Hepatic Lactate Dehydrogenase Reduces Oxalate Production in Mouse Models of Primary Hyperoxaluria

Late diagnosis of primary hyperoxaluria type III

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