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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Amino Acid Metabolism, Inborn Errors > Alkaptonuria
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Amino Acid Metabolism, Inborn Errors > Alkaptonuria

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Alkaptonuria  

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Tipo

  • mesh:Descriptor

Definición

  • An inborn error of amino acid metabolism resulting from a defect in the enzyme HOMOGENTISATE 1,2-DIOXYGENASE, an enzyme involved in the breakdown of PHENYLALANINE and TYROSINE. It is characterized by accumulation of HOMOGENTISIC ACID in the urine, OCHRONOSIS in various tissues, and ARTHRITIS.

Concepto genérico

Conceptos relacionados

Etiquetas alternativas

  • Alcaptonuria
  • Homogentisic Acid Oxidase Deficiency
  • Homogentisic Acidura

En otras lenguas

  • Alcaptonurie

    francés

  • Déficit en oxydase homogentisique
  • Maladie de l'urine noire

URI

http://data.loterre.fr/ark:/67375/JVR-R141M9LK-2

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