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Alkaptonuria: Introduction

Alkaptonuria: A rare disorder where the abnormal accumulation of a particular acid (homogentisic acid) in the body causes connective tissue and bone damage. This damage gives tissues a dark or bluish discoloration. More detailed information about the symptoms, causes, and treatments of Alkaptonuria is available below.

Symptoms of Alkaptonuria

Home Diagnostic Testing

Home medical testing related to Alkaptonuria:

Wrongly Diagnosed with Alkaptonuria?

Alkaptonuria: Related Patient Stories

Alkaptonuria: Deaths

Read more about Deaths and Alkaptonuria.

Alkaptonuria: Complications

Read more about complications of Alkaptonuria.

Causes of Alkaptonuria

Read more about causes of Alkaptonuria.

More information about causes of Alkaptonuria:

Disease Topics Related To Alkaptonuria

Research the causes of these diseases that are similar to, or related to, Alkaptonuria:

Alkaptonuria: Undiagnosed Conditions

Commonly undiagnosed diseases in related medical categories:

Misdiagnosis and Alkaptonuria

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Alkaptonuria: Research Doctors & Specialists

Research related physicians and medical specialists:

Other doctor, physician and specialist research services:

Research about Alkaptonuria

Visit our research pages for current research about Alkaptonuria treatments.

Clinical Trials for Alkaptonuria

The US based website lists information on both federally and privately supported clinical trials using human volunteers.

Some of the clinical trials listed on for Alkaptonuria include:

Statistics for Alkaptonuria

Alkaptonuria: Broader Related Topics

User Interactive Forums

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Definitions of Alkaptonuria:

An inborn error of amino acid metabolism resulting from a defect in the enzyme homogentisate 1,2-dioxygenase and causing an accumulation of homogentisic acid in the urine. The condition is characterized by ochronosis in various tissues and arthritis. - (Source - Diseases Database)

Alkaptonuria is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Alkaptonuria, or a subtype of Alkaptonuria, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Alkaptonuria as a "rare disease".
Source - Orphanet


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