Ochronosis / Alkaptonuria

Ochronosis / Alkaptonuria: Overview

Ochronosis is the musculoskeletal manifestation of alkaptonuria – a rather rare (one in 200,000 births) inherited disorder of protein metabolism characterized by an inability of the body to metabolize the amino acids tyrosine and phenylalanine.  It affects especially the large joints (hip, knees and vertebral column) by a progressive degenerative arthrosis.

Diagnose your symptoms now!
  • check your overall health status
  • let The Analyst™ find what's wrong
  • identify any nutritional deficiencies

It was Scribonius who described the first known case of ochronosis in 1584.  He mentioned a schoolboy who passed urine black as ink.  In 1902, Albrecht and Zdareck discovered the link with alkaptonuria.


The incidence of alkaptonuria is 1 per million with the highest prevalence in Slovakia by inbreeding. [Laoussadi S., Menkes C.-J. Arthroses D'Etiologie rare. Rev. Rhum. Ed. Fr., nr 9 bis, Vol. 61, Nov. 1994]

Signs and Symptoms

The outward signs are the ocular (eye) and the skin pigmentations, the genitourinary calculi (stones) and cardiovascular ochronosis (especially the aortic valve).  The symptoms mostly begin within the third or fourth decade.

Diagnosis and Tests

The corner stones of diagnosis are the examination of the urine (black color) and the histopathological examination with hematoxylin-eosin staining confirming the ochronotic pigments in the tissues.

Treatment and Prevention

There is no cure for ochronotic arthropathy.  The enzyme deficiency is as yet untreatable, but there is hope of gene therapy in the future.  There only exists a symptomatic treatment: analgetics, NSAID, physical therapy, orthopedic supports and intra-articular corticoid infiltration, especially in the knee.

On This Page

Ochronosis / Alkaptonuria:

Signs, symptoms & indicators of Ochronosis / Alkaptonuria:

Symptoms - Nails

Symptoms - Urinary

Dark urine color

Although a very rare disease, the main outward symptom of ochronosis is black urine.

Concerned or curious about your health?  Try The Analyst™
Symptom Entry
Symptom Entry
Full Explanations
Optional Doctor Review
Review (optional)

Recommendations for Ochronosis / Alkaptonuria:


Invasive / Surgery


Arthroplasty of the hip and knee is often necessary.

Physical Medicine


Vitamin C (Ascorbic Acid)

Some physicians prescribe high doses of ascorbic acid to prevent the interaction of the ochronotic pigment with the tissues.  Unfortunately, the progress of the disease is not interrupted by this treatment.

Report by The Analyst™
Click to see sample report
Health problems rarely occur in isolation or for obvious reasons

Your body is a highly complex, interconnected system.  Instead of guessing at what might be wrong, let us help you discover what is really going on inside your body based on the many clues it is giving.

Our multiple symptom checker provides in-depth health analysis by The Analyst™ with full explanations, recommendations and (optionally) doctors available for case review and answering your specific questions.


Weak or unproven link: may be a sign or symptom of
Weak or unproven link:
may be a sign or symptom of
Strong or generally accepted link: is often a sign or symptom of
Strong or generally accepted link:
is often a sign or symptom of
May be useful: may help with
May be useful:
may help with
Moderately useful: often helps with
Moderately useful:
often helps with
We use cookies for traffic analysis, advertising, and to provide the best user experience