These findings confirmed the diagnosis of alkaptonuria
Ochronosis is a syndrome that is characterized by pigmentation of various connective tissues, including human cartilage, and is caused by high concentrations of homogentisic acid due to alkaptonuria
(inherent homogentisic acid oxidase deficiency) [1, 2].
Reversal of clinical symptoms and radiographic abnormalities with protein restriction and ascorbic acid in alkaptonuria
We hereby report one such case where the patient presented with spontaneous rupture of tendon and on further investigations he was diagnosed as a case of alkaptonuria
The authors would like to thank the Deanship of Academic Research at Mutah University for providing funding to the Alkaptonuria
research project in Jordan.
Apart from the dark urine, most of the symptoms of alkaptonuria
are not observed until the fourth to fifth decade.
Acute anterior uveitis as the initial presentation of alkaptonuria
Mr Gregory, from Roby, who founded the Alkaptonuria
Society, said: "We've been working with the university for five years.
Among them are hypertension, alkaptonuria
, systemic chondromalacia, relapsing polychondritis, and familial cold hypersensitivity.
Some of the major inborn error of metabolism disorders include phenylketonuria, tyrosyluria, alkaptonuria
, melaninuria, maple syrup urine disease, organic acidemias, indicanuria, 5-hydroxyindolacetic aciduria, cystinuria, cystinosis, and homocystinuria (Camp, Francis, & Shropshire, 2003; Strasinger & Lorenzo, 2001).
In 1902, the physician Sir Archibald Garrod, investigating alkaptonuria
, a rare inherited enzyme deficiency, suggested that enzymes were important in the detoxification of foreign substances, and that genetically determined differences in the operation of enzymes (characterized by Garrod as "inborn errors of metabolism") could be responsible for ADRs.
Garrod to map a metabolic disease, alkaptonuria
, to a Mendelian pattern of inheritance.