Primary hyperoxaluria type

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... 

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

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

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 ... 

Signs and Symptoms Table Primary hyperoxaluria type 1 ... 

Latta K, Brodehl J Primary hyperoxaluria type I. Eur J Pediatr 1990 149 518-522. 

Danpure CJ, Rumsby G Strategies for the prenatal diagnosis of primary hyperoxaluria type 1. Prenat Diagn 1996 16 587-598. 

Leiper JM, Oatey PB, Danpure CJ Inhibition of alanine glyoxylate aminotransferase 1 dimerization is a prerequisite for its peroxisome-to-mitochondrion mistargeting in primary hyperoxaluria type 1. J Cell Biol 1996 135 939-951. 

Tarn AC, von Schnakenburg C, Rumsby G Primary hyperoxaluria type 1 diagnostic relevance of mutations and polymorphisms in the alanine glyoxylate aminotransferase gene (AGXT). J Inherit Metab Dis 1997 20 689-696. 

Von Schnakenburg C, Hulton SA, Milford DV, Roper HP, Rumsby G Variable presentation of primary hyperoxaluria type 1 in two patients homozygous for a novel combined deletion and insertion mutation in exon 8 of the AGXT gene. Nephron 1998 78 485-488. 

Cramer SD, Ferree PM, Lin K, Milliner DS, Holmes RP The gene encoding hydro-xypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II. Hum Mol Genet 1999 8 2063-2069. 

Fig. 20.2a,b. A 10-month-old girl with primary hyperoxaluria type 1. a Sonogram of right kidney showing diffuse nephro-calcinosis. b Sonogram of bladder showing a small stone... 

Primary hyperoxaluria type I (PH I) (Fig. 20.2) is a rare, autosomal recessive inherited disease caused by a defect in glyoxylate metabolism with low or absent activity of liver-specific peroxisomal ala-nine-glyoxylate aminotransferase (ACT) (Danpure 1989). The AGXT gene is located on chromosome 2q36-37 (Purdue et al. 1991). The disease prevalence is two patients per million population (Kopp and Leumann 1995) in Europe. 

Slightly elevated urinary oxalate excretion and plasma oxalate levels in patients may indicate another not yet well-defined form of primary hyperoxaluria (type III ) (Monico and Milliner 1999 Rose 1988). Patients have severe recurrent urolithiasis, but may respond even to low doses of pyridoxine (Edwards and Rose 1991 Hoppe et al. 2007). 

Danpure CJ (1989) Recent advances in the understanding, diagnosis and treatment of primary hyperoxaluria type I. J Inher Metab Dis 12 210-224... 

Dyer RB, Chen MYM, Zagoria RJ (1998) Abnormal calcifications in the urinary tract. Radiographics 18 1405-1424 Edwards P, Rose GA (1991) Metabolism ofpyridoxine in mild metabolic hyperoxaluria and primary hyperoxaluria (type I). Urol Int 47 113-117... 

Lam AH, Warren PS (1981) Ultrasonographic diagnosis of neonatal renal venous thrombosis. (Diagnostic chographique de la thrombose des veines renales du nouveau-n ). Ann Radiol 24 7-12 Latta K, Brodehl J (1990) Primary hyperoxaluria type I. Eur J Pediatr 149 518-522... 

Nephrolithiasis and/or nephrocalcinosis may be additional findings on sonography and can be confirmed on plain abdominal radiograph. Renal or urinary tract stones are found in uropathies caused by recurrent urinary infections and urine stasis. Nephrocalcinosis may be the consequence of acid-base disturbance and hypercalciuria in congenital tubulopathies. The presence of nephrocalcinosis and nephrolithiasis favors primary hyperoxaluria type 1 (PH 1) as diagnosis. This autosomal recessive inherited disease is caused by a deficiency of the liver-specific peroxisomal enzyme alanine-gly-... 

Fig.21.1. Plain radiograph. Bilateral nephrocalcinosis in an infant with primary hyperoxaluria type 1 presenting with oliguria during the first weeks of life...

Cochat P, Gaulier JM, Koch Nogueira PC et al (1999) Combined liver-kidney transplantation in primary hyperoxaluria type 1. Eur J Pediatr 158 [Suppl 2] S75-S80... 

Primary hyperoxaluria Type I (glycollic aciduria) Glycollic, oxalic and glyoxylic acids Cytosol glyoxylate 2-oxoglutarate carboligase 16.3.1... 

Primary hyperoxaluria type I (McKusick 25 990) is a rare autosomal recessively inherited disorder of glyoxylate metabolism in which patients... 

Fig. 16.4 Chromatogram of organic acids extracted using DEAE-Saphadex from the urine of a patient with primary hyperoxaluria type I, separated as their ethoxime and trimethylsilyl derivatives on 10 per cent OV-101 on HP Chromosorb W (80-KX) mesh) using temperature programming from 110°C to 285°C at 4°C min with a 5 min initial isothermal delay. Peak identifications are 1, glyoxylate 2, glycollate 3, oxalate 4, sulphate 5, phosphate 6, tetronates 7, citrate 8, undecanedioate (internalstandard) 9, Az-tetracosane (standard) 10, -hexaxosane (standard).

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