NIH Rare Diseases

Primary hyperoxaluria type 1 (PH1) is a rare disorder that mainly affects the kidneys. It results from buildup of a substance called oxalate, which normally is filtered through the kidneys and excreted in the urine. In people with PH1, the accumulated oxalate is deposited in the kidneys and urinary tract. It combines with calcium, forming the main component of kidney and bladder stones (calcium oxalate). Signs and symptoms of PH1 vary in severity and may begin any time from infancy to early adulthood. Symptoms may include recurrent kidney stones; blood in the urine; and urinary tract infections. Left untreated, PH1 can result in end-stage renal disease, which is life-threatening. PH1 is due to mutations in a gene called AGXT. Inheritance is autosomal recessive. Early treatment is important for maintaining kidney function. Each person's treatment plan depends on his/her symptoms and the severity of the condition. Management may involve high fluid intake; vitamin B6 (pyridoxine); calcium-oxalate crystallization inhibitors (citrate, pyrophosphate, and magnesium); kidney stone therapies; and dialysis in some cases. Liver and/or kidney transplantation may be needed. Last updated: 8/12/2016

MalaCards based summary

Hyperoxaluria, Primary, Type I, also known as glycolic aciduria, is related to primary hyperoxaluria and hyperoxaluria, primary, type iii, and has symptoms including dysuria, failure to thrive and abnormality of the dentition. An important gene associated with Hyperoxaluria, Primary, Type I is AGXT (Alanine-Glyoxylate Aminotransferase). The drugs Bone Density Conservation Agents and Calcium, Dietary have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and bone.

OMIM

Primary hyperoxaluria type I is an autosomal recessive disorder characterized by an accumulation of calcium oxalate in various bodily tissues, especially the kidney, resulting in renal failure. Affected individuals have decreased or absent AGXT activity and a failure to transaminate glyoxylate, which causes the accumulated glyoxylate to be oxidized to oxalate. This overproduction of oxalate results in the accumulation of nonsoluble calcium oxalate in various body tissues, with pathologic sequelae (Takada et al., 1990; Danpure et al., 1989; Williams et al., 2009) (259900)

UniProtKB/Swiss-Prot

Hyperoxaluria primary 1: An inborn error of glyoxylate metabolism characterized by increased excretion of oxalate and glycolate, and progressive tissue accumulation of insoluble calcium oxalate. Affected individuals are at risk for nephrolithiasis, nephrocalcinosis and early onset end-stage renal disease.