alkaptonuria…

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alcaptonuria, homogentisic acid oxidase deficiency, ochronosis, alkaptonuria, rare inherited disorder of metabolism, characterized by urine that turns black, exposed to air, another characteristic, development of arthritis in adulthood, alkaptonuria, autosomal recessive inherited disorder, in affected individuals, an amino acid known, tyrosine is not properly metabolized, due to a defect in an enzyme, homogentisic acid oxidase, the defect, homogentisic acid is excreted, in the urine, turns a brown color upon exposure to air, the result of a dark pigment, an ochre color, earthy red, yellow, led, name ochronosis, bones, cartilage, the body brown-colored, infant, child, family history of alkaptonuria, urine in diaper, darken after several hours, become black, adult, progressive arthritis, the spine, darkening, the ear, from black staining, the cartilage, in the ear, dark spots on the sclera, white, the eye, cornea, urinalysis is positive, reducing substance, further urine testing shows a positive ferric chloride test, patients benefit from high-dose vitamin c, decrease the build-up of brown pigment, in the cartilage, slow the rate of development of arthritis, outcome is expected to be good, accumulation of homogentisic acid products, in the cartilage causes, arthritis in, 50% of older adults, alkaptonuria, homogentisic acid products, accumulate on the heart valves, the mitral valve, the need, valve replacement, coronary artery disease, develop earlier, alkaptonuria, kidney, prostate stones more common, alkaptonuria, own urine, child's urine becomes dark brown, black upon exposure to air, most genetic diseases, alkaptonuria cannot be prevented, the manifestations, arthritis, minimized by treatment.