Primary Hyperoxaluria

Archer, H. E.; Dormer, A. E.; Scowen, E. F.; Watts, R. W. E.

doi:10.1016/s0140-6736(57)92210-9

Cited by 79 publications

(13 citation statements)

References 7 publications

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“…About 30 years ago Archer and coworkers [4] presumed a metabolic defect as the cause of the disease. In 1967 Koch and Stokstad [33] described a deficiency of cytosolic 2-oxo-glutarate carboligase in a patient with hyperoxaluria.…”

Section: Historymentioning

confidence: 99%

Primary hyperoxaluria type I

1990

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Primary hyperoxaluria type I is a metabolic disorder caused by the deficiency of the peroxisomal alanine:glyoxylate aminotransferase. The disease is inherited as an autosomal recessive trait. The clinical course is outlined based on data from 330 published cases. Diagnostic cornerstones are clinical parameters, urinary excretion of oxalate and glycolate, and the determination of enzyme activity in liver tissue. Principles of conservative treatment, e.g. volume load and pyridoxine substitution, are described as well as experience with different modes of dialysis and transplantation. Kidney transplantation is associated with a high rate of recurrence of the original disease despite excellent management resulting in many instances in early graft loss. Liver transplantation offers the possibility to correct the metabolic defect and to prevent the progression of crystal deposition in the body.

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Section: Historymentioning

confidence: 99%

Primary hyperoxaluria type I

1990

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“…1 Type I PH (PHI, MIM# 259900; gene AGXT, MIM# 604285) is caused by deficient or absent activity of liver-specific alanine-glyoxylateaminotransferase (AGT). 2,3 It represents the most frequent and most severe PH phenotype with end-stage renal disease (ESRD) being the predictable outcome for the majority of adults. Moreover, ESRD within the first years of life, a condition termed infantile oxalosis, occurs in a substantial subgroup of children representing 10-18% of the total cohort.…”

Section: Introductionmentioning

confidence: 99%

Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies

et al. 2012

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Identification of mutations in the HOGA1 gene as the cause of autosomal recessive primary hyperoxaluria (PH) type III has revitalized research in the field of PH and related stone disease. In contrast to the well-characterized entities of PH type I and type II, the pathophysiology and prevalence of type III is largely unknown. In this study, we analyzed a large cohort of subjects previously tested negative for type I/II by complete HOGA1 sequencing. Seven distinct mutations, among them four novel, were found in 15 patients. In patients of non-consanguineous European descent the previously reported c.700 þ 5G4T splice-site mutation was predominant and represents a potential founder mutation, while in consanguineous families private homozygous mutations were identified throughout the gene. Furthermore, we identified a family where a homozygous mutation in HOGA1 (p.P190L) segregated in two siblings with an additional AGXT mutation (p.D201E). The two girls exhibiting triallelic inheritance presented a more severe phenotype than their only mildly affected p.P190L homozygous father. In silico analysis of five mutations reveals that HOGA1 deficiency is causing type III, yet reduced HOGA1 expression or aberrant subcellular protein targeting is unlikely to be the responsible pathomechanism. Our results strongly suggest HOGA1 as a major cause of PH, indicate a greater genetic heterogeneity of hyperoxaluria, and point to a favorable outcome of type III in the context of PH despite incomplete or absent biochemical remission. Multiallelic inheritance could have implications for genetic testing strategies and might represent an unrecognized mechanism for phenotype variability in PH.

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“…This makes us suspect that cases of hyperoxaluria may be missed in screening surveys due to large fluctuations in the urinary excretion of oxalic acid. Such fluctuations have earlier been observed in normals as well as in hyperoxalurics (9). Consequently urinary analysis for oxalic acid should be performed repeatedly in the same individual.…”

Section: Discussionmentioning

confidence: 75%

Primary Hyperoxaluria (Glycolic Acid Variant)

Holmgren¹,

Hörnström²,

Johansson³

et al. 1978

Upsala Journal of Medical Sciences

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Al3STRACTThe clinical features of eight cases of primary hyperoxaluria have been summarized. The possibility of different phenotypes is discussed. A reduction, but no no,.,,,alization, of the oxalate formation during pyridoxine therapy was found. A renal transplantation performed in one of the patients failed because of the formation of nephrocalcinosis.and for oxalic acid in serum 20.2-32.10 pmol/l. These values are in good agreement with corresponding values described in the literature (I1).The analytical error determined from the differences ( D ) between double determinations according to the and as Pmol/ml was for oxalic acid 0.49 Pmollml, for glycolic acid 0.25 pmol/ml and for glyoxylic acid 0.04 pmol/ml.

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Primary Hyperoxaluria

Cited by 79 publications

References 7 publications

Primary hyperoxaluria type I

Primary hyperoxaluria type I

Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies

Primary Hyperoxaluria (Glycolic Acid Variant)

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