is a rare inborn error of metabolism caused by mutations in the gene responsible for the production of homogentisate 1,2-dioxygenase, an enzyme that plays an important role in the normal degradation of the aromatic amino acids tyrosine and phenylalanine.
However, pathological tissue pigmentation is occasionally induced under several specific conditions, including ochronotic arthritis accompanied by alkaptonuria
[1-3], haemosiderosis , and the use of drugs for Parkinson's disease [5, 6] or antibiotics [7-9].
(AKU) is an extremely rare autosomal recessive metabolic disorder characterized by a triad of homogentisic aciduria, arthritis, and ochronosis, affecting only 2–5 in a million individuals.
is a rare autosomal recessive metabolic disorder.
is a rare autosomal recessive disease that affects one in 250,000-1 million people.
Maureen McClure, 62, is the only woman and one of just three people in Scotland with alkaptonuria
(AKU) - known as black bone disease.
Nick Sireau, 40, was shocked to discover his boys Julien and Daniel had alkaptonuria
- also called black bone disease - which affects just one in 500,000 people.
4 At Mayo Hospital, Lahore, one case of alkaptonuria
and three siblings with mental retardation and aminoaciduria were detected from among 2,000 children screened.
In contrast, alkaptonuria
is a deficiency of homogentisic acid oxidase because of which urine turns black after air exposure.
is a rare metabolic disorder in the phenylalanine and tyrosine catabolic pathway which is characterized by the excessive excretion of homogentisic acid in the urine, ochronosis, and debilitating arthritis of the spine and large joints.
Teams will work on varied challenges, including: a new 'bioartificial' liver support system to treat acute liver failure; powerful data processing operations to develop novel diagnostic tools, biomarkers and screening strategies for therapeutic agents against rare kidney diseases; and the clinical development of a drug to treat alkaptonuria
, a genetic disorder which leads to a severe and early-onset form of arthritis, heart disease and disability for which there is currently no effective treatment.
He was eventually diagnosed with black bone disease, or alkaptonuria
, commonly referred to as AKU.