Alkaptonuria (patient information): Difference between revisions

Jump to navigation Jump to search
No edit summary
Line 62: Line 62:
{{WH}}
{{WH}}
{{WS}}
{{WS}}
[[Category:Patient Information]]
[[Category:Patient information]]
[[Category:Genetic disorders]]
[[Category:Genetic disorders]]
[[Category:Inborn errors of metabolism]]
[[Category:Inborn errors of metabolism]]

Revision as of 04:55, 31 July 2011

For the WikiDoc page for this topic, click here

WikiDoc Resources for Alkaptonuria (patient information)

Articles

Most recent articles on Alkaptonuria (patient information)

Most cited articles on Alkaptonuria (patient information)

Review articles on Alkaptonuria (patient information)

Articles on Alkaptonuria (patient information) in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Alkaptonuria (patient information)

Images of Alkaptonuria (patient information)

Photos of Alkaptonuria (patient information)

Podcasts & MP3s on Alkaptonuria (patient information)

Videos on Alkaptonuria (patient information)

Evidence Based Medicine

Cochrane Collaboration on Alkaptonuria (patient information)

Bandolier on Alkaptonuria (patient information)

TRIP on Alkaptonuria (patient information)

Clinical Trials

Ongoing Trials on Alkaptonuria (patient information) at Clinical Trials.gov

Trial results on Alkaptonuria (patient information)

Clinical Trials on Alkaptonuria (patient information) at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Alkaptonuria (patient information)

NICE Guidance on Alkaptonuria (patient information)

NHS PRODIGY Guidance

FDA on Alkaptonuria (patient information)

CDC on Alkaptonuria (patient information)

Books

Books on Alkaptonuria (patient information)

News

Alkaptonuria (patient information) in the news

Be alerted to news on Alkaptonuria (patient information)

News trends on Alkaptonuria (patient information)

Commentary

Blogs on Alkaptonuria (patient information)

Definitions

Definitions of Alkaptonuria (patient information)

Patient Resources / Community

Patient resources on Alkaptonuria (patient information)

Discussion groups on Alkaptonuria (patient information)

Patient Handouts on Alkaptonuria (patient information)

Directions to Hospitals Treating Alkaptonuria (patient information)

Risk calculators and risk factors for Alkaptonuria (patient information)

Healthcare Provider Resources

Symptoms of Alkaptonuria (patient information)

Causes & Risk Factors for Alkaptonuria (patient information)

Diagnostic studies for Alkaptonuria (patient information)

Treatment of Alkaptonuria (patient information)

Continuing Medical Education (CME)

CME Programs on Alkaptonuria (patient information)

International

Alkaptonuria (patient information) en Espanol

Alkaptonuria (patient information) en Francais

Business

Alkaptonuria (patient information) in the Marketplace

Patents on Alkaptonuria (patient information)

Experimental / Informatics

List of terms related to Alkaptonuria (patient information)

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Assistant Editor(s)-in-Chief: Katherine Ogando

Overview

Alkaptonuria is a rare condition in which a person's urine turns a dark brownish-black color when exposed to air.

What are the symptoms of Alkaptonuria?

Urine in an infant's diaper may darken and can turn almost black after several hours. However, many persons with this condition may not know they have it until mid-adulthood (around age 40), when joint and other problems occur.

Symptoms may include:

  • Arthritis (especially of the spine) that gets worse over time
  • Darkening of the ear
  • Dark spots on the white of the eye (sclera) and cornea

What causes Alkaptonuria?

A defect in the HGD gene causes alkaptonuria.

The gene defect makes the body unable to properly break down certain amino acids (tyrosine and phenylalanine). As a result, a substance called homogentisic acid builds up in the skin and other body tissues. The acid leaves the body through the urine. The urine turns brownish-black when it mixes with air.

Alkaptonuria is inherited, which means it is passed down from parents to their children. To get this disease, each of your parents must pass you a copy of the faulty HGD gene.

When to seek urgent medical care?

Call your health care provider if you notice that your own urine or your child's urine becomes dark brown or black when it is exposed to air.

Diagnosis

A urine test (urinalysis) is done to test for alkaptonuria. If ferric chloride is added to the urine, it will turn the urine a black color in patients with this condition.

Treatment options

Some patients benefit from high-dose vitamin C. This has been shown to decrease the build-up of brown pigment in the cartilage and may slow the development of arthritis.

Diseases with similar symptoms

Where to find medical care for Alkaptonuria

Directions to Hospitals Treating Alkaptonuria

Prevention of Alkaptonuria

There is no know prevention of alkaptonuria.

What to expect (Outlook/Prognosis)

The outcome for people affected with alkaptonuria is generally expected to be good. Some possible complications include people with this condition also can get arthritis in adulthood. The build-up of homogentisic acid in the cartilage causes arthritis in about 50% of older adults with alkaptonuria.

  • Homogentisic acid also can build up on the heart valves, especially the mitral valve. This can sometimes lead to the need for valve replacement.
  • Coronary artery disease may develop earlier in people with alkaptonuria.
  • Kidney stones and prostate stones may be more common in people with alkaptonuria.

Possible Complications

People with this condition also can get arthritis in adulthood. The build-up of homogentisic acid in the cartilage causes arthritis in about 50% of older adults with alkaptonuria.

  • Homogentisic acid also can build up on the heart valves, especially the mitral valve. This can sometimes lead to the need for valve replacement.
  • Coronary artery disease may develop earlier in people with alkaptonuria.
  • Kidney stones and prostate stones may be more common in people with alkaptonuria.

Sources

Medline Plus: Alkaptonuria

Template:SIB Template:WH Template:WS