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Primary hyperoxaluria
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Primary hyperoxaluria

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Contributors: Catherine Moore MD
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Synopsis

Primary hyperoxalurias are a group of rare, autosomal recessive disorders in glyoxylate metabolism. Excess oxalate production results and leads to systemic deposition. The most common clinical manifestations include nephrolithiasis or nephrocalcinosis, but bone, retinal, and vascular disease may also occur.

Type I primary hyperoxaluria results from a deficiency of in the AGXT gene and decreased enzymatic conversion of glyoxylate to glycine. Excess glyoxylate is eventually broken down into oxalate. Type II is caused by a deficiency in glyoxylate reductase / hydroxypyruvate reductase gene (GRHPR). Type III primary hyperoxaluria is caused by mutation in the mitochondrial dihydrodipicolinate synthase-like gene.

Treatment is focused on preventing stone formation and includes high fluid intake, oral vitamin B6 and citrate supplementation, and thiazide diuretics. Foods high in oxalate (eg, wheat bran, spinach, rhubarb, beets and beet greens, and chocolate) should be avoided in these patients.

For more information, see OMIM.

Codes

ICD10CM:
E74.8 – Other specified disorders of carbohydrate metabolism

SNOMEDCT:
17901006 – Primary hyperoxaluria

Differential Diagnosis & Pitfalls

Best Tests

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Last Updated: 03/29/2017
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Primary hyperoxaluria
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Primary hyperoxaluria : Failure to thrive, Hematuria, Metabolic acidosis, RBC decreased
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