Primary oxaluria type 2 (l-glyceric aciduria): A rare cause of nephrolithiasis in children

Seargeant, L.E.; Degroot, Gaetan-Nagim; Dilling, Louise A.; Mallory, C.; Haworth, J. C.

doi:10.1016/s0022-3476(05)82207-3

Cited by 35 publications

(14 citation statements)

References 6 publications

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“…1). The exact tissue distribution of D-GD/GR is unknown and absence of D-GD/GR in liver [18,21] and of D-GD in leucocytes [3] in PH 2 has been demonstrated. There are no data to what extent enzyme de®ciency in dierent tissues contributes to the pathobiochemistry of PH 2.…”

Section: Biochemical Defectmentioning

confidence: 99%

“…The latter is important especially in suspected PH 1 patients without hyperglycolluria (accounting for up to 30% of cases [6,7,11]). Usually, the diagnosis can be established by documentation of increased urinary excretion of oxalate (>0.46 mmol/1.73 m 2 BSA/day or >2SD above established oxalate/creatinine ratios [2,12,20]) and L-glycerate (>28lmol/mmol creatinine [4,21]); urinary glycolate and glyoxylate are normal. However, hyperoxaluria in PH 2 tends to be less pronounced than in PH 1, which is important since reference data for oxalate excretion vary considerably, Fig.…”

Section: Clinical Presentationmentioning

confidence: 99%

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Primary hyperoxaluria type 2

Kemper

Conrad

Müller‐Wiefel

1997

European Journal of Pediatrics

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Section: Biochemical Defectmentioning

confidence: 99%

Section: Clinical Presentationmentioning

confidence: 99%

Primary hyperoxaluria type 2

Kemper

Conrad

Müller‐Wiefel

1997

European Journal of Pediatrics

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“…In Type 1 primary hyperoxaluria, there is a reduction of alanine : glyoxylate aminotransferase (AGT) activity in the liver, leading to an accumulation of oxalate [2]. Type 2 primary hyperoxaluria involves a mutation of glyoxylate reductase/D-glycerate dehydrogenase, leading to the excretion of increased amounts of L-glyceric acid as well as oxalate [3].…”

Section: Introductionmentioning

confidence: 99%

Vitamin C Induced Oxalate Nephropathy

2017

American Journal of Kidney Diseases

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Although a multitude of syndromes have been thoroughly described as a result of vitamin deficiencies, over consumption of such substances may also be quite dangerous. Intratubular crystallization of calcium oxalate as a result of hyperoxaluria can cause acute renal failure. This type of renal failure is known as oxalate nephropathy. Hyperoxaluria occurs as a result of inherited enzymatic deficiencies known as primary hyperoxaluria or from exogenous sources known as secondary hyperoxaluria. Extensive literature has reported and explained the mechanism of increased absorption of oxalate in malabsorptive syndromes leading to renal injury. However, other causes of secondary hyperoxaluria may also take place either via direct dietary consumption of oxalate rich products or via other substances which may metabolize into oxalate within the body. Vitamin C is metabolized to oxalate. Oral or parenteral administration of this vitamin has been used in multiple settings such as an alternative treatment of malignancy or as an immune booster. This article presents a clinical case in which ingestion of high amounts of vitamin C lead to oxalate nephropathy. This article further reviews other previously published cases in order to illustrate and highlight the potential renal harm this vitamin poses if consumed in excessive amounts.

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“…Glyoxalate can also be metabolized to glycolate, in a reaction catalyzed in part by the cytosolic enzyme glyoxalate reductase/D-glycerate dehydrogenase. Deficiency of this enzyme leads to the less common primary hyperoxaluria type 2 (PH2) [3]. PH1, which is the more common type of the disorder, is characterized by excessive excretion of oxalate and glycolate in the urine, while PH2 is characterized by hyperoxaluria and L-glyceric aciduria [1][2][3].…”

Section: Introductionmentioning

confidence: 99%

“…Deficiency of this enzyme leads to the less common primary hyperoxaluria type 2 (PH2) [3]. PH1, which is the more common type of the disorder, is characterized by excessive excretion of oxalate and glycolate in the urine, while PH2 is characterized by hyperoxaluria and L-glyceric aciduria [1][2][3]. PH1 is responsible for F1% of the cases of end-stage renal disease (ESRD) in children, developing in one half of the patients by the age of 15 years [4].…”

Section: Introductionmentioning

confidence: 99%

Oxalate Kinetics and Reversal of the Complications after Orthotopic Liver Transplantation in a Patient with Primary Hyperoxalosis Type 1 Awaiting Renal Transplantation

Bastani¹,

Mistry²,

Nahass

et al. 1999

Am J Nephrol

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We present the case of a young woman with end-stage renal disease secondary to primary hyperoxaluria type 1, who after 3 years and 6 months of maintenance hemodialysis, and despite intensification of the dialytic treatment, developed severe livedo reticularis in her extremities leading to ischemic cutaneous ulcerations, necessitating continuous intravenous infusion of narcotics for pain control. She received a liver transplant after native hepatectomy. However, due to positive crossmatch, she could not receive a kidney from that donor. After transplantation, following serial serum oxalate levels, the hemodialysis regimen was safely reduced from 4 h daily to 3 h three times weekly. Over the course of 6 weeks after liver transplantation, her livedo reticularis resolved, the ischemic ulcers markedly improved, she was weaned off all pain medications, and her erythropoietin-resistant anemia resolved. Our results suggest that in patients with primary hyperoxaluria type 1, who have received a liver transplant and are on maintenance hemodialysis, after serial serum oxalate determinations, some may safely be changed to a thrice-weekly maintenance hemodialysis regimen. Moreover, with this regimen the complications of systemic oxalosis can reverse.

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Primary oxaluria type 2 (l-glyceric aciduria): A rare cause of nephrolithiasis in children

Cited by 35 publications

References 6 publications

Primary hyperoxaluria type 2

Primary hyperoxaluria type 2

Vitamin C Induced Oxalate Nephropathy

Oxalate Kinetics and Reversal of the Complications after Orthotopic Liver Transplantation in a Patient with Primary Hyperoxalosis Type 1 Awaiting Renal Transplantation

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