Hyperoxaluria type

Hyperoxaluria type 1 is due to functional efficiency of the liver specific peroxisomal enzyme alanine-glyoxylate aminotransferase. It leads to severe renal failure. The nervous system is not affected. 

D-bifunctional protein deficiency [5], 2-methyl acyl-CoA racemase (AMACR) deficiency [3] and sterol carrier protein (SCP-x) deficiency [6], the disorders of etherphospholipid biosynthesis (dihydroxyacetone phosphate acyltransferase and alkyl- dihydroxyacetone phosphate synthase deficiency) [2], the disorders of phytanic acid alpha-oxidation (Refsum disease) [15], and the disorders of glyoxylate detoxification with hyperoxaluria type 1 as caused by alanine glyoxylate aminotransferase deficiency as a sole representative. 

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 ... 

Creatine biosynthesis defects Lysosomal cystine transport def., infantile Lysosomal cystine transport def, adolescent Hyperoxaluria type 1 Malonyl-CoA decarboxylase def Lysosomal cystine transport def, infantile Lysosomal cystine transport def, adolescent... 

Hyperoxaluria type 1 Hyp erammo nem i a Dibasic aminoaciduria Lysinuric protein intolerance MCAD... 

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... 

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