Hyperoxaluria, Primary (Type I)

Hyperoxaluria, Primary (Type I)

National Organization for Rare Disorders, Inc.


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  • Oxalosis
  • PH Type I

Disorder Subdivisions

  • None

General Discussion

Primary Hyperoxaluria (Type I) is a hereditary disorder characterized by an inborn error of glyoxylate. Excessive formation of oxalate occurs in the liver, resulting in excessive levels of oxalate in the blood and urine. Calcium oxalate does not dissolve and consequently stones are formed in the urinary tract.


Symptoms of Primary Hyperoxaluria (Type I) may begin at any time throughout life, and can occur during infancy, but usually begin between 2 and 10 years of age. The symptoms may include intense abdominal pain radiating to the groin, blood that can be seen in the urine, and the passage of kidney stones. Oxalosis refers to the deposition of calcium oxalate in body tissues, and symptoms may vary, depending upon where this happens.


Primary Hyperoxaluria (Type I) is a hereditary disorder transmitted in an autosomal recessive fashion. An inborn error of glyoxylate metabolism causes an excess of oxalate in the urine, leading to formation of calcium oxalate stones in the kidney. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is 25 percent. Fifty percent of their children risk being carriers of the disease, but generally will not show symptoms of the disorder. Twenty-five percent of their children may receive both normal genes, one from each parent, and will be genetically normal (for that particular trait). The risk is the same for each pregnancy.

Affected Populations

Primary Hyperoxaluria (Type I) affects males and females in equal numbers. It is a rare disorder.

Standard Therapies

A minority of patients with Primary Hyperoxaluria (Type I) may be helped by large doses of pyridoxine (vitamin B6). Orthophosphate, magnesium or citrate therapies may reduce the risk of stone formation. Plenty of liquid should be consumed to dilute the urine, thus minimizing the risk of formation of calcium oxalate stones. Small kidney stones may be passed in the urine spontaneously. Others may be broken up by shock wave fragmentation (lithotrypsy), although large stones may require surgery. If kidney function deteriorates beyond a certain level, hemodialysis and/or kidney transplantation may be considered. Liver transplantation is curative for Primary Hyperoxaluria (Type I).

Genetic counseling may be helpful to families of Primary Hyperoxaluria (Type I) patients.

Investigational Therapies

Studies are underway to use oxalate-degrading intestinal bacteria to reduce the body burden of oxalate in patients with Primary Hyperoxaluria (Type I).

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources, contact:




Gagnadoux MD et al. Long term results of liver-kidney transplantation in children with primary hyperoxaluria. Pediatr Nephrol. 2001;16:946-50.

Monico CG, Milliner DS. Combined liver-kidney and kidney-alone transplantation in primary hyperoxaluria. Liver Transpl. 2001;7:954-63.

Marangella M et al. The primary hyperoxalurias. Contrib Nephrol. 2001;136:11-32.

Amorosa A et al. AGXT gene mutations and their influence on clinical heterogeneity of type I primary hyperoxaluria. J Am Soc Nephrol. 2001;12:1072-79.

Langman CB. The optimal approach to the patient with oxalosis. Adv Ren Replace Ther. 2001;8:214-22.

Leumann E, Hoppe B. The primary hyperoxalurias. J Am Soc Nephrol. 2001;12:1986-93.

Ellis SR, et al. Combined lvier-kidney transplantation for primary hyperoxaluria type I in young children. Nephrol Dial Transplant. 2001;16:348-54.

Rumsby G. Biochemical and genetic diagnosis of the primary hyperoxalurias: a review. Mol Urol. 2000;4:349-54.

Milliner DS, Wilson DM, Smith LH. Phenotypic expression of primary hyperoxaluria: comparative features of types I and II. Kidney Int. 2001;59:31-36.

Lumb MJ, Danpure CJ. Functional synergism between the most common polymorphism in human alanine:glyoxylate saminotransferase and four fo the most common disease-causing mutations. J Biol Chem. 2000;275:36415-22.

Cochat P, Basmaison O. Current approaches to the management of primary hyperoxaluria. Arch Dis Child. 2000;82:470-73.


McKusick VA, ed. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University; Entry No: 259900;Last Update:11/5/2002.


CLIMB (Children Living with Inherited Metabolic Diseases)

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Oxalosis and Hyperoxaluria Foundation

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Suite 12E

New York, NY 10003


Tel: (212)777-0470

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NIH/National Institute of Diabetes, Digestive & Kidney Diseases

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Genetic and Rare Diseases (GARD) Information Center

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Madisons Foundation

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Email: getinfo@madisonsfoundation.org

Internet: http://www.madisonsfoundation.org

Rare Kidney Stone Consortium

Mayo Clinic

200 First St., SW

Rochester, MN 55901

Tel: (507)266-8265

Fax: (507)255-0770

Tel: (800)270-4637

Email: rarekidneystones@mayo.edu

Internet: http://www.rarekidneystones.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.

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