Alkaptonuria, black urine disease or alcaptonuria is a rare inherited genetic disorder of phenylalanine and tyrosine metabolism.
Factsheet on these disorders, their cause, clinical features and treatment.
The BBC reports on a father who researched potential cures with medical specialists, and they consequently discovered that the drug nitisinone was a “very, very effective treatment.”
An in depth look article on this disorder written by Karl S Roth, MD. From a description to treatment all aspects of this disease are discussed.
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.
Factsheet on this autosomal recessive condition, its epidemiology, presentation, differential diagnosis, investigations, complications, management, prognosis and prevention.
Encyclopedia article on this rare inherited genetic disorder.
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