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Friday, Jan 09, 2009 | 04:15 PM
Madisons Foundation - Moms And Dads In Search Of Needed Support
Alkaptonuria
Ochronosis
Sunday, 25 January 2004
Last Updated Sunday, 21 November 2004
What
Alkaptonuria is a rare childhood disorder that causes a substance called homogentisic acid to build up in the body. Children with this disorder have an enzyme that doesn’t work correctly. This enzyme is unable to breakdown two important amino acids called tyrosine and phenylalanine. Homogentisic acid then starts to collect in abnormal amounts in the body. Too much homogentisic acid can cause problems in the joints and cartilage of the body.Who
Alkaptonuria affects boys and girls equally. It is passed on to children from their parents in a pattern called autosomal recessive inheritance. This means that each parent carries a gene for the disorder without knowing it; if one of their children inherits both of these genes, he or she will develop the disorder. Only 1 out of every 250,000 people in the world will have this disorder. It has been found to be most common in people from Slovakia and the Dominican Republic.Signs and Symptoms
One warning sign that your child may have alkaptonuria is the presence of dark urine in the diapers. Because the urine won’t darken until it sits for many hours, however, the disorder is not always caught this way. It is more usual for adults to develop other symptoms, especially the following: 1. Joint pain (arthritis) 2. Back pain 3. Decreased movement of joints 4. Brown or blue discoloration of the ears or eyes 5. Sudden, severe abdominal pain caused by kidney stones 6. heart murmur (an extra sound in the heart that is not normally heard)Possible Causes
The cause of alkaptonuria is unknown at this time. Researchers have identified the gene that carries the disorder, however genetic testing is still inconclusive so research is ongoing.Diagnosis
Diagnosis of alkaptonuria is made by examining the urine for the presence of homogentisic acid. X-rays may also be taken to decide if your child’s joints and bones show arthritic changes.Treatment
Treatment for alkaptonuria focuses on both symptomatic relief and prevention of complications. Children with this disorder have previously been prescribed large doses of Vitamin C to help prevent arthritis; this is no longer thought to be helpful. A new medicine called nitisinone is currently being studied as a possible way to prevent excess production of homogentisic acid. Most often, people with this disorder need to use medicines called anti-inflammatories to help arthritic pain.Prognosis
Alkaptonuria is not often life threatening. The most commonly seen problem is arthritis. Arthritis usually doesn’t develop until people are in their 30s, but it is possible that joint replacements will be necessary when your child reaches their 50s. Heart valves can become affected by the disorder, but this also doesn’t occur until people reach their 50s. Routine visits to the doctor can help assure quality of life and a normal life span.Connect with other parents
In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.Weblinks
The Alkaptonuria Society
This website is a British-based, non-profit organization sponsored by the University of Liverpool School of Medicine. This site provides basic information, links to other sites, a section covering ongoing research, and information about support groups.
eMedicine
This website is a private, U.S.-based company with extensive articles written by physicians for other health care providers. This site provides detailed and technical descriptions of specific illnesses.
MedicineNet
This website is a private, U.S.-based company with articles written by physicians for patients and consumers. This site provides detailed descriptions of specific illnesses.