The metabolic error in primary hyperoxaluria.

Hockaday, T. D. R.; Clayton, J. E.; Smith, Lynwood H.

doi:10.1136/adc.40.213.485

Cited by 30 publications

(9 citation statements)

References 32 publications

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“…The probable reason for this is that either the wrong enzyme (glutamate : glyoxylate aminotransferase) was investigated, or that the wrong liver fractions (mitochondria [5]; high-speed super- natants [4,7]) were studied. No abnormality was found in these areas in this study.…”

Section: Discussionmentioning

confidence: 99%

Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I

1986

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Activities of alanine:glyoxylate aminotransferase in the livers of two patients with primary hyperoxaluria type I were substantially lower than those found in five control human livers. Detailed subcellular fractionation of one of the hyperoxaluric livers, compared with a control liver, showed that there was a complete absence of peroxisomal alanine:glyoxylate aminotransferase. This enzyme deficiency explains most of the biochemical characteristics of the disease and means that primary hyperoxaluria type I should be added to the rather select list of peroxisomal disorders.

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Section: Discussionmentioning

confidence: 99%

Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I

1986

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“…Stein and Moore, 1954;Evered, 1956;Cusworth and Dent, 1960;Ackerman and Kheim, 1964;Iob, McMath, and Coon, 1963;Wehr and Lewis, 1966) being in general agreement with the present values. Frederick et al (1963) andHockaday et al (1965) reported decreased metabolism of glyoxylate to glycine and carbon dioxide in patients with primary hyperoxaluria, as judged by reduced incorporation of [1 -14C] glyoxylate into the urinary glycine and hippurate, and into respiratory carbon dioxide. Dean et al (1966) found that glycine and carbon dioxide formation, from glyoxylate--C1, were grossly impaired in kidney tissue from two cases of primary hyperoxaluria.…”

Section: Discussionmentioning

confidence: 99%

“…The urinary excretions of oxalate and glycollate are increased in primary hyperoxaluria, and there is evidence that the metabolic lesion involves the glycine-glyoxylate pathway of glycine metabolism (Frederick, Rabkin, Richie, and Smith, 1963;Hockaday, Clayton, and Smith, 1965;Dean, Griffin, and Watts, 1966). The present investigation was undertaken to determine if patients with primary hyperoxaluria have any detectable changes in their over-all pattern of amino acid metabolism, as judged by the plasma and urinary concentrations and the renal clearances of the main physiologically important amino acids.…”

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confidence: 99%

Plasma and urinary amino acids in children with primary hyperoxaluria and in normal children.

Gibbs¹,

Thompson²,

Watts³

1967

Archives of Disease in Childhood

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“…The resulting defective transamination of glyoxylate, normally occurring in the peroxisomes, causes accumulation of glyoxylate which is oxidized to oxalate in the peroxisomes (catalysed by GO), or diffuses in the cytosol where it is reduced to glycolate (catalysed by GR or LDH), oxidized to oxalate (catalysed by LDH), or transaminated to glycine (catalysed by GGT). Therefore, AGT deficiency causes defective detoxification from glyoxylate, which is converted to either oxalate or glycolate, whose levels rise in plasma and urine [23,24] PH1 is also defined as hyperglycolic aciduria.…”

Section: Enzymic Defects In Ph1 and Ph2mentioning

confidence: 99%

The Primary Hyperoxalurias

Marangella

Petrarulo

Vitale

et al. 2001

Contributions to Nephrology

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The primary hyperoxalurias (PHs) are rare inherited diseases, characterized by elevated endogenous production of oxalate, and are essentially caused by defective detoxification of glyoxylate from body fluids [1]. The clinical consequences of this overproduction are due to three properties of oxalate: it is an end product of metabolism, it has a strong affinity for calcium, and the resulting salts have a very low solubility [2]. Fortunately, the body clearance of oxalate, which is quite solely accomplished by the kidney, is very efficient and, normally, plasma levels of oxalate are in the order of mol/l, with a daily production and excretion of 20 -50 mol [3][4][5].The main characteristics of oxalate turnover in man are depicted in table 1. At the physiological pH oxalic acid is virtually all dissociated and strongly binds to calcium. In aqueous solution the thermodynamic solubility product is in the order of few milligrams. Thanks to a very efficient renal elimination, plasma levels are kept well below the values corresponding to the limit of supersaturation [6]. However, this results in relatively high concentrations of oxalate in human urine, which are therefore quite always supersaturated with respect to calcium oxalate [7]. Indeed, oxalate is the main constituent of up to 70% of all renal stones [8].Most of the newly generated oxalate comes from endogenous sources, and only about 10% is absorbed in the intestine from dietary oxalate. However, the fraction of oxalate absorbed from the bowel varies greatly, and mostly depends on the presence of calcium in the diet [9]. The remaining 90% comes from endogenous sources, the principal dietary precursors being sugars, amino acids and ascorbate [10,11]. Whereas some doubt still remain about the actual contribution Schieppati A, Daina E, Sessa A, Remuzzi G (eds): Rare Kidney Diseases.

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The metabolic error in primary hyperoxaluria.

Cited by 30 publications

References 32 publications

Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I

Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I

Plasma and urinary amino acids in children with primary hyperoxaluria and in normal children.

The Primary Hyperoxalurias

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