Alkaptonuria

Information about you

Source: NHS

If you or your child hasalkaptonuria, your clinical team will pass information about you/your childon to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS).

This helps scientists look for better ways to prevent and treat this condition. You can opt out of the register at any time.

Find out more about the register .

Articles for Alkaptonuria

How alkaptonuria is inherited

Each cell in the body contains 23 pairs of chromosomes. These carry the genes you inherit from your parents. One of each pair of chromosomes is inherited from each parent, which means (with the excep

How alkaptonuria is inherited

Each cell in the body contains 23 pairs of chromosomes. These carry the genes you inherit from your parents. One of each pair of chromosomes is inherited from each parent, which means (with the excep

How alkaptonuria is managed

Alkaptonuria is a lifelong condition there's currently no specific treatment or cure. However, amedicine called nitisinone has shown some promise, and painkillers and lifestyle changes may help you c

How alkaptonuria is managed

Alkaptonuria is a lifelong condition there's currently no specific treatment or cure. However, amedicine called nitisinone has shown some promise, and painkillers and lifestyle changes may help you c

Information about you

If you or your child hasalkaptonuria, your clinical team will pass information about you/your childon to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS). This helps s

Information about you

If you or your child hasalkaptonuria, your clinical team will pass information about you/your childon to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS). This helps s

Introduction

Read about alkaptonuria, or "black urine disease", a rare inherited disorder that can turn urine and parts of the body a dark colour and lead to a range of other problems over time.

Outlook

People with alkaptonuria have a normal life expectancy. However, they will usually experience severe symptoms, such as pain and loss of movement in the joints, which considerably impact on quality of

Outlook

People with alkaptonuria have a normal life expectancy. However, they will usually experience severe symptoms, such as pain and loss of movement in the joints, which considerably impact on quality of

Signs and symptoms in adults

Over the course of many years, homogentisic acidslowly builds up in tissues throughout the body. Itcan build up in almost any area of the body, including the cartilage, tendons,bones, nails, ears and

Signs and symptoms in adults

Over the course of many years, homogentisic acidslowly builds up in tissues throughout the body. Itcan build up in almost any area of the body, including the cartilage, tendons,bones, nails, ears and