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

Preferred term

Alkaptonuria  

Type

  • Topical Descriptor

Broader concept

Related concepts

Entry terms

  • Alcaptonuria
  • Alcaptonurias
  • Homogentisic Acid Oxidase Deficiency
  • Homogentisic Acidura

Scope note

  • 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.

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URI

http://www.yso.fi/onto/mesh/D000474

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