Alcaptonuria

Alcaptonuria

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Alcaptonuria(alcaptonuria) is a hereditary disease with an autosomal recessive mode of inheritance of a homogentisinase defect leading to a metabolic disorder. Due to the low activity of the enzyme homogentisinase, homogentisic acid accumulates in the body tissues.

Alcaptonuria is manifested in adults by the pigmentation of various tissues and organs (ochronosis), the development of arthrosis, in children by dark staining of urine, and sometimes earwax. The physical and mental development of patients does not suffer.

DIAGNOSIS. Alcaptonuria can be installed immediately after the birth of a baby - on the diapers moistened with urine, there are unwashed stains due to the release of a large amount of homoentisinic acid.

TREATMENT. The purpose of ascorbic acid, reducing the excretion of homogentisic acid. There are no restrictions on diet.

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