Arthritis & Rheumatism

Alkaptonuria: New hope for treatment of rare genetic disease

(Medical Xpress)—Scientists at the University of Liverpool have found that a drug treatment administered at the earliest signs of a rare genetic disease could prevent the condition from developing in later life.

Diseases, Conditions, Syndromes

Researchers find treatment for ultra-rare disease

A new study published in Molecular Genetics and Metabolism, conducted by a Liverpool based research collaboration involving the University of Liverpool, has identified the drug that treats the extremely rare genetic disease ...

Arthritis & Rheumatism

New cases of rare genetic disorder identified

Scientists at the University of Liverpool, working with international partners, have shown a rare genetic disease, that causes crippling osteoarthritis in the spine and major joints, is far more prevalent worldwide than previously ...

Medical research

Earwax: A new frontier of human odor information

Scientists from the Monell Center have used analytical organic chemistry to identify the presence of odor-producing chemical compounds in human earwax. Further, they found that the amounts of these compounds differ between ...

Genetics

EU releases 144 mn euro for new rare disease research

The European Union on Thursday pledged 144 million euros of fresh funding for research on rare diseases that currently affect some 30 million Europeans, the majority of them children.

Alkaptonuria (black urine disease or alcaptonuria) is a rare inherited genetic disorder of phenylalanine and tyrosine metabolism. This is an autosomal recessive condition that is due to a defect in the enzyme homogentisate 1,2-dioxygenase (EC 1.13.11.5), which participates in the degradation of tyrosine. As a result, a toxic tyrosine byproduct called homogentisic acid (or alkapton) accumulates in the blood and is excreted in urine in large amounts (hence -uria). Excessive homogentisic acid causes damage to cartilage (ochronosis, leading to osteoarthritis) and heart valves as well as precipitating as kidney stones. Treatment with nitisinone, which suppresses homogentisic acid production, is being studied. Alkaptonuria is more common in Slovakia and the Dominican Republic than in other countries.

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