• Home

Home > Medical Reference > Encyclopedia (English)

Toggle: English / Spanish

Alkaptonuria

• Overview
• Symptoms
• Treatment
• Prevention

Definition:

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

See also: Inborn error of metabolism

Alternative Names:

AKU; Alcaptonuria; Homogentisic acid oxidase deficiency; Alcaptonuric ochronosis

Causes, incidence, and risk factors:

A defect in the HGD gene causes alkaptonuria.

The gene defect makes the body unable to properly break down certain proteins (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.

• Review Date: 7/2/2007
• Reviewed By: Brian Kirmse, M.D., Department of Human Genetics, Mount Sinai School of Medicine, New York, NY. Review provided by VeriMed Healthcare Network.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's accreditation program is the first of its kind, requiring compliance with 53 standards of quality and accountability, verified by independent audit. A.D.A.M. is among the first to achieve this important distinction for online health information and services. Learn more about A.D.A.M.'s editorial process . A.D.A.M. is also a founding member of Hi-Ethics (www.hiethics.com) and subscribes to the principles of the Health on the Net Foundation (www.hon.ch).

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 1997-2007 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.