Gourt > Health > Conditions and Diseases > Genetic Disorders > Alkaptonuria
Alkaptonuria (black urine disease, alcaptonuria or ochronosis) is a rare inherited genetic disorder of tyrosine metabolism. This is an autosomal recessive trait that is caused by a defect in the enzyme homogentisic acid oxidase (). The enzyme normally breaks down a toxic tyrosine byproduct, homogentisic acid (also called alkapton), which is harmful to bones and cartilage and is excreted in urine.
Symptoms
A distinctive characteristic of alkaptonuria is that urine or ear wax exposed to air turns reddish or inky black, depending on what one has eaten, after several hours because of the build-up of homogentisic acid. In adulthood, persons suffering from alkaptonuria develop progressive arthritis (especially of the spine), due to its degenerative effects on bones and cartilage.
Diagnosis
Presumptive diagnosis can be made by adding sodium or potassium hydroxide to urine and observing the formation of a dark brown to black pigment on the surface layer of urine within 30 minutes to 1 hour. Diagnosis can be confirmed by demonstrating the presence of homogentisic acid in the urine. This may be done by paper chromatography and thin-layer chromatography (Seegmiller, 1998). More on [ Alkaptonuria ]
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Alkaptonuria - A brief discussion about this disease and its statistics world wide. Followed by a case study of a 4 year old boy, whose parents noted the darkening of the urine to an almost black color when it was left standing.
Alkaptonuria and Ochronosis - A detailed look at these disorders, how it affects the many body parts, diagnosis, diet and treatment are discussed.
Meta Description: [ Alkaptonuria is a rare disease in which the body does not have enough of a specific enzyme. Ochronosis is a blue-black discoloration of bone, cartilage, and skin caused by deposits of ochre-colored pigment. ]
MedicineNet.com : Alkaptonuria - An article about this disease beginning with an explanation as to what it is, followed by how it is inherited, how it affects the joints, symptoms, diagnosis and treatment.
Meta Description: [ Explains arthritis conditions includes symptoms, causes, medications, and treatment. Written and reviewed by a Rheumatologist. ]
The Alkaptonuria Society - An information and support network for those people diagnosed with Alkaptonuria. Includes discussions, articles and related resources.
Meta Description: [ The Alkaptonuria Society is a charity that raises awareness and seeks a cure for a rare and serious genetic disease, Alkaptonuria. ]
