alkaptonuria


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  • noun

Synonyms for alkaptonuria

a rare recessive metabolic anomaly marked by ochronosis and the presence of alkapton in the urine

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References in periodicals archive ?
The condition is most often associated with alkaptonuria but can occur from exogenous administration of phenol complexes like hydroquinone.
Severe pigmentary abnormalities in the joint occasionally occur after several specific conditions, such as ochronotic arthropathy due to alkaptonuria [1-3] and the use of drugs for Parkinson's disease [5, 6] or antibiotics [7-9].
High frequency of alkaptonuria in Slovakia: evidence for the appearance of multiple mutations in HGO involving different mutational hot spots.
Usually the disease progresses from simple alkaptonuria to alkaptonuric arthropathy by the fourth or fifth decade of life in 30% of patients.
Alkaptonuria is a rare pathologic condition that is passed as an autosomal recessive trait in most cases.
Alkaptonuria (AKU) is a rare metabolic, autosomal recessive disorder in the phenylalanine and tyrosine catabolic pathway that is characterized by the accumulation of homogentisic acid (HGA; homogentisic aciduria) in the body, especially in the connective tissues (cartilage, tendons, and ligaments) (1) Alkaptonuria is caused by mutations in the homogetisate 1.
Researchers have identified more than 100 new cases of the disease, called alkaptonuria (AKU) in a small community in Vellore, India, bringing the total number of patients there to 130.
Donations can be made in lieu of flowers, in aid of the Alkaptonuria (AKU) Society c/o J Bardgett & Sons, 571 Westgate Road, Newcastle upon Tyne, NE4 9PQ.
A common symptom of alkaptonuria, ochronosis is the result of excess homogentisic acid (HGA) due to the autosomal recessive mutation of the homogentisate 1, 2-dioxygenase (HGO) gene on chromosome 3.
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
En 1902, Archibald Garrod identifico esta enfermedad, la primera de indole metabolica congenita conocida, y la llamo alkaptonuria, pues se caracterizaba por la acumulacion en la orina de una sustancia que entonces se conocia como alkaptone o alkapton body (sustancia reductora responsable de que la orina en reposo se oscurezca por oxidacion) pero que hoy se conoce como acido homogentisico.
Robert Gregory, 59, has suffered from Alkaptonuria, often known as Black Bone Disease, since birth.