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alkaptonuria: Diseases & Medical Conditions Search Results
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alkaptonuria - Definition: (Source: MedicineNet)

Alkaptonuria: A genetic metabolic disorder due to deficiency of the enzyme homogentisic acid (HGA) dioxygenase. Deficiency of this enzyme leads to the three cardinal features of alkaptonuria --the presence of homogentisic acid in the urine, ochronosis (bluish-black pigmentation in connective tissue ), and arthritis. ...
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About alkaptonuria (Source: eMedicineHealth)
A genetic metabolic disorder due to deficiency of the enzyme homogentisic acid (HGA) dioxygenase. Deficiency of this enzyme leads to the three cardinal features of alkaptonuria --the presence of homogentisic acid in the urine, ochronosis (bluish-black pigmentation in connective tissue), and arthritis. ...
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Causes of alkaptonuria (Source: MedLinePlus)
Causes A defect in the HGD gene causes alkaptonuria. The gene defect makes the body unable to properly break down certain amino acids (tyrosine and phenylalanine). As a result, a substance called homogentisic acid builds up in the skin and other body tissues. The acid leaves the body through the urine. The urine turns brownish-black when it mixes with air. Alkaptonuria is inherited, which means it is passed down from parents to their children. To get this disease, each of your parents must pass ...
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Symptoms of alkaptonuria (Source: MedLinePlus)
Symptoms Urine in an infant's diaper may darken and can turn almost black after several hours. However, many persons with this condition may not know they have it until mid-adulthood (around age 40), when joint and other problems occur. Symptoms may include: Arthritis (especially of the spine) that gets worse over time; Darkening of the ear; Dark spots on the white of the eye ( sclera ) and cornea; ...
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alkaptonuria - Conventional Treatments (Source: MedLinePlus)
Treatment Some patients benefit from high-dose vitamin C. This has been shown to decrease the build-up of brown pigment in the cartilage and may slow the development of arthritis. ...
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