Alkaptonuria

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by supersimrin
Last updated 6 years ago

Discipline:
Science
Subject:
Genetics
Grade:
11

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Alkaptonuria

Alkaptonuria

Alkaptonuria (AKU) is a rare disease, which causes severe, early-onset osteoarthritis. It can be a painful and degenerative disease. Other names for AKU include Black Bone Disease or black urine disease. Alkaptonuria is caused by the lack of an enzyme called homogentisic dioxygenase (HGD).

What is Alkaptonuria?

Alkaptonuria is caused by a mutation of the homogentisate dioxygenase (HGD) gene. It is an autosomally recessive condition. That means that both of your parents must have the gene in order to pass the condition onto you. Alkaptonuria is a rare disease. It affects only one out of every 100,000-200,000 people worldwide.

Causes

Symptoms

http://www.healthline.com/health/alkaptonuria#Symptoms3http://www.akusociety.org/what-is-alkaptonuriahttp://ghr.nlm.nih.gov/condition/alkaptonuria

http://ghr.nlm.nih.gov/condition/alkaptonuriahttp://www.akusociety.org/what-is-alkaptonuriahttp://emedicine.medscape.com/article/941530-treatment#d6

Some symptoms of Alkaptonuria include black urine when exposed to air, discolouration of bone and cartilage in a process called ochronosis, brown or blue discoloration of the sclera (white) of the eyes, dark spots on the skin, lower back pain, arthritis in the hips and knees, kidney stones and bladder stones

Treatment

-physiotherapy can help with joint pain- some patients take Vitamin C as an anti oxidant- light exercise can help slow the progress of osteoarthritis- a low-protein diet may help to reduce amino acid levels-Phenylalanine should be eliminated from the patient's diet

People with alkaptonuria live normal lives and are not held back by it. Those with alkaptonuria have the same life expectancy as those without the condition.

Alkaptonuria affects males and females and all races at the same rate, and since it is inherited, people have it have it all of their lives.

Mode of Inheritance


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