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.
E74.8 – Other specified disorders of carbohydrate metabolism
17901006 – Primary hyperoxaluria
- Small bowel disease
- Cystic fibrosis
- Excessive oxalate consumption