DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn [C16.320] Genetic Diseases, Inborn Metabolism, Inborn Errors [C16.320.565] Metabolism, Inborn Errors Amino Acid Metabolism, Inborn Errors [C16.320.565.100] Amino Acid Metabolism, Inborn Errors Albinism [C16.320.565.100.102] Albinism Alkaptonuria [C16.320.565.100.187] Alkaptonuria Hyperglycinemia, Nonketotic [C16.320.565.100.477] Hyperglycinemia, Nonketotic Hyperhomocysteinemia [C16.320.565.100.480] Hyperhomocysteinemia Hyperlysinemias [C16.320.565.100.544] Hyperlysinemias Maple Syrup Urine Disease [C16.320.565.100.608] Maple Syrup Urine Disease Multiple Acyl Coenzyme A Dehydrogenase Deficiency [C16.320.565.100.614] Multiple Acyl Coenzyme A Dehydrogenase Deficiency Multiple Carboxylase Deficiency [C16.320.565.100.620] Multiple Carboxylase Deficiency Phenylketonurias [C16.320.565.100.766] Phenylketonurias Prolidase Deficiency [C16.320.565.100.794] Prolidase Deficiency Propionic Acidemia [C16.320.565.100.823] Propionic Acidemia Tyrosinemias [C16.320.565.100.880] Tyrosinemias Urea Cycle Disorders, Inborn [C16.320.565.100.940] Urea Cycle Disorders, Inborn DISEASES Nutritional and Metabolic Diseases [C18] Nutritional and Metabolic Diseases Metabolic Diseases [C18.452] Metabolic Diseases Metabolism, Inborn Errors [C18.452.648] Metabolism, Inborn Errors Amino Acid Metabolism, Inborn Errors [C18.452.648.100] Amino Acid Metabolism, Inborn Errors Albinism [C18.452.648.100.102] Albinism Alkaptonuria [C18.452.648.100.187] Alkaptonuria Hyperglycinemia, Nonketotic [C18.452.648.100.477] Hyperglycinemia, Nonketotic Hyperhomocysteinemia [C18.452.648.100.480] Hyperhomocysteinemia Hyperlysinemias [C18.452.648.100.544] Hyperlysinemias Maple Syrup Urine Disease [C18.452.648.100.608] Maple Syrup Urine Disease Multiple Acyl Coenzyme A Dehydrogenase Deficiency [C18.452.648.100.614] Multiple Acyl Coenzyme A Dehydrogenase Deficiency Multiple Carboxylase Deficiency [C18.452.648.100.620] Multiple Carboxylase Deficiency Phenylketonurias [C18.452.648.100.766] Phenylketonurias Propionic Acidemia [C18.452.648.100.823] Propionic Acidemia Tyrosinemias [C18.452.648.100.880] Tyrosinemias Urea Cycle Disorders, Inborn [C18.452.648.100.940] Urea Cycle Disorders, Inborn

Alkaptonuria - Preferred

Concept UI	M0000717
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.
Preferred term	Alkaptonuria
Entry term(s)	Alcaptonuria Alcaptonurias Homogentisic Acid Oxidase Deficiency Homogentisic Acidura