Hyperoxaluria primary

Glycinuria results from a defect in renal tubular reabsorption. The defect in primary hyperoxaluria is the failure to catabolize glyoxylate formed by deamination of glycine. Subsequent oxidation of glyoxylate to oxalate results in urohthiasis, nephrocalcinosis, and early mortality from renal failure or hypertension. 

Metabohc diseases associated with glycine catabohsm include glycinuria and primary hyperoxaluria. 

Contraindications Primary or secondary hyperparathyroidism, including hypercalci-uria (renal calcium leak), hypomagnesemic states (serum magnesium less than 1.5 mg/dl), bone disease (osteoporosis, osteomalacia, osteitis), hypocalcemic states (e.g., hypoparathyroidism, intestinal malabsorption), normal or low intestinal absorption and renal excretion of calcium, enteric hyperoxaluria, and patients with high fasting urinary calcium or hypophosphatemia. 

Table 3.5.4 Laboratory findings for patients with primary hyperoxaluria type I (modified from Schnakenburg and Latta [1]). N Normal, P plasma, U urine...

Fig. 3.5.4a-c Chromatographic separation of glycolate, chloride, sulfate, oxalate, phosphate, and citrate, a Standard mixture b nondiseased urine C urine from a patient with primary hyperoxaluria type I. In this system, glycolate coelutes with fluoride... 

Leumann E, Hoppe B, Neuhaus T, Blau N (1995) Efficacy of oral citrate administration in primary hyperoxaluria. Nephrol Dial Transplant 10 14-16... 

This is apparently an indirect result of the primary defect in utilization of hydroxypyruvate. It has been suggested that oxidation of glyoxylate by NAD+ is coupled to the reduction of hydroxypyruvate by NADH 366 This and other hyperoxalurias are very serious diseases characterized by the formation of calcium oxalate crystals in tissues and often death from kidney failure before the age of 20. 

Primary hyperoxaluria, type 1 Peroxisomal alanine-glyoxylate transaminase 2.6.1.44... 

As shown in Table 9.4, vitamin Be dependency has been reported in cases of type I primary hyperoxaluria, xanthurenic aciduria, homocystinuria, hypochromic sideroblastic anemia, gyrate atrophy with ornithinemia, and vitamin Be responsive infantile convulsions. In this last condition, the underlying defect has not been identified, but is almost certainly not impaired activity of glutamate decarboxylase. 

Glycollic aciduria (Primary hyperoxaluria Type I) Glycollic, glyoxylic, oxalic... 

Marangella M. Transplantation strategies in type 1 primary hyperoxaluria the issue of pyridoxine responsiveness. Nephrol Dial Transplant 1999 14(2) 301-3. 

The terminology used to describe conditions associated with prominent renal calcium deposits dismisses the importance of the phosphate anion. Renal parenchymal injury with prominent calcium oxalate deposition is referred to as oxalate nephropathy. Oxalate nephropathy is seen in the setting of primary hyperoxaluria or enteric hyperoxaluria secondary to fat malabsorption. Renal parenchymal injury with abundant calcium phosphate deposits is referred to as... 

Milliner DS, Wilson RD, Smith LH. Phenotypic expression of primary hyperoxaluria comparative features oftype land II. Kidney Int. 2001 59 31-6. 

Sikora P, von Unruh G, Beck B, Eeldkotter M, Zajaczdowska M, Hesse A et al. [13C2] Oxalate absorption in children with idiopathic calcium oxalate urolithiasis or primary hyperoxaluria. Kidney Int. 2008 73 1181-6. 

PHI primary hyperoxaluria type 1 SEM standard error of the mean... 

Primary hyperoxaluria type I is due to a deficiency of cytosolic a-ketoglutarate-glyoxylate carboligase, which catalyzes the following reaction ... 

Primary hyperoxaluria has been defined by Archer et al. (A7, A9) as a clinical entity characterized by progressive calcium oxalate urolithiasis and nephrocalcinosis beginning in early childhood. It might be associated with disseminated extrarenal calcium oxalate deposits, a condition known as oxalosis (A7) it is not known whether oxalosis always represents a stage in the natural history of primary hyperoxaluria (S9). 

The excessive endogenous oxalate formation appears to be due to a metabolic change in glycine metabolism. Thus, Scowen et al. (S8) found that the administration of labeled glycine to such patients is followed by a prompt and considerable incorporation of the isotope into the urinary oxalate. The excessive glycine incorporation into urinary oxalate was confirmed recently in a patient with primary hyperoxaluria by Elder and Wyngaarden (El), who found, on the contrary, a normal incorporation in another patient having only inconstant hyperoxaluria. 

As the conversion of glycine to oxalic acid proceeds via glyoxylic acid (Fig. 4), primary hyperoxaluria may be due to an excessive conversion of glycine to glyoxylic acid or to a failure in the oxidation of glyoxylic acid. 

These findings are of primary interest, as they might relate abnormal oxalate production in hiunans to vitamin Be deficiency. It has been found, for instance, that vitamin Be supplements decreased oxalate excretion in human subjects receiving diets which seemed more than adequate in vitamin Be (G7). The role of vitamin Be in the production of primary hyperoxaluria and oxalosis in human subjects has, however, not been demonstrated. 

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