alkaptonuria


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Noun1.alkaptonuria - a rare recessive metabolic anomaly marked by ochronosis and the presence of alkapton in the urinealkaptonuria - a rare recessive metabolic anomaly marked by ochronosis and the presence of alkapton in the urine
metabolic disorder - a disorder or defect of metabolism
Translations

alkaptonuria

n alcaptonuria
References in periodicals archive ?
Alkaptonuria and ochronosis: case report and review.
9), the first relation between a genetic defect and a biochemical abnormality was reported in the study of the human disease alkaptonuria by Archibald Garrod in his book Inborn Errors of Metabolism (1909).
Sbou' explained that Alkaptonuria is caused by deficiency of the enzyme homogentisic acid oxidase (HGO), as a consequence of the enzymatic block, the homogentisic acid (HGA) accumulates in body tissues, vertebrae, joints and heart valves,.
From darkening urine to early diagnosis of alkaptonuria.
Rare: Cancer of the Pancreas, Hemoglobinuria, Crush Syndrome, Melanoma, Alkaptonuria
Robert Gregory, 59, has suffered from Alkaptonuria, often known as Black Bone Disease, since birth.
Among them are hypertension, alkaptonuria, systemic chondromalacia, relapsing polychondritis, and familial cold hypersensitivity.
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.
The patient is a 66-year-old, white woman with a known history of alkaptonuria.
Alkaptonuria is an example of the simple model of genetic disease.
Robert Gregory, 63, from Childwall, has a debilitating condition called Alkaptonuria which is known as Black Bone Disease because it makes sufferers bone go black and brittle.