$Unique_ID{BRK03844} $Pretitle{} $Title{Hyperoxaluria, Primary (Type I)} $Subject{Hyperoxaluria, Primary (Type I) Glycolic Aciduria PH Type I Oxalosis Cystinuria} $Volume{} $Log{} Copyright (C) 1987, 1988, 1989 National Organization for Rare Disorders, Inc. 470: Hyperoxaluria, Primary (Type I) ** IMPORTANT ** It is possible the main title of the article (Primary Hyperoxaluria (Type I)) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Glycolic Aciduria PH Type I Oxalosis Information on the following disorder can be found in the Related Disorders section of this report: Cystinuria General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Primary Hyperoxaluria (Type I) is a hereditary disorder characterized by an inborn error of glyoxylic acid metabolism. Excessive formation of oxalic acid occurs in the liver, spleen, and kidneys, resulting in excessive levels of the acid in the urine. Calcium oxalate does not dissolve and consequently "stones" are formed in the urinary tract. Symptoms Symptoms of Primary Hyperoxaluria (Type I) usually begin between 2 and 10 years of age, but can begin during infancy. The disorder is characterized by a burning sensation in the mouth, nausea, vomiting and abdominal pain. Pain in the kidney (renal colic) and passage of stones from the kidney also occur. Infection of the urinary tract is common. Calcium oxalate levels in the urine are increased. Occasionally, uric acid in the blood (uricemia) may also occur. In rare cases, an irregular heart beat may develop. Causes Primary Hyperoxaluria (Type I) is a hereditary disorder transmitted by autosomal recessive genes. An inborn error of glyoxylic acid metabolism causes an excess of oxalic acid 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 from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) Affected Population Primary Hyperoxaluria (Type I) affects males and females in equal numbers. It is a rare disorder. Related Disorders Cystinuria is an inherited defect in the intestinal and kidney metabolism of the amino acid cystine. This causes excessive urinary excretion of this amino acid leading to the formation of "stones" in the urinary tract. Infections may also occur. Symptoms include blood in the urine and excruciating pain in the patient's side or back. (For more information on this disorder, choose "cystinuria" as your search term in the Rare Disease Database.) Therapies: Standard A minority of patients with Primary Hyperoxaluria (Type I) may be helped by large doses of pyridoxine (vitamin B6). Avoiding foods high in oxalic acid such as spinach and rhubarb may also be helpful. 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 (lithotripsy), although large stones may require surgery. If kidney function deteriorates beyond a certain level, hemodialysis and/or kidney transplantation may be considered. Unfortunately, these measures are often less successful in treating this disorder than other types of kidney disease. Genetic counseling may be helpful to families of Primary Hyperoxaluria (Type I) patients. Therapies: Investigational Combined liver and kidney transplants have been performed experimentally on Primary Hyperoxaluria (Type I) patients. However, more research is necessary to determine long-term effectiveness and safety of this procedure. This disease entry is based upon medical information available through June 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Primary Hyperoxaluria (Type I), please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The Oxalosis and Hyperoxaluria Foundation 24815-144th Place, S.E. Kent, WA 98042 (206) 631-0386 National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-6344 Research Trust for Metabolic Diseases in Children Golden Gates Lodge, Weston Rd. Crewe CW1 1XN, England Telephone: (0270) 250244 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References THE METABOLIC BASIS OF INHERITED DISEASE, 5th ed.: John B. Stanbury, et al, eds.; McGraw-Hill, 1983. Pp. 204-228.