Alkaptonuria

"Alkaptonuria" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

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.

Descriptor ID	D000474
MeSH Number(s)	C16.320.565.100.187 C18.452.648.100.187
Concept/Terms	Alkaptonuria Alkaptonuria Homogentisic Acidura Alcaptonuria Alcaptonurias Homogentisic Acid Oxidase Deficiency

Below are MeSH descriptors whose meaning is more general than "Alkaptonuria".

Diseases [C]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Genetic Diseases, Inborn [C16.320]
Metabolism, Inborn Errors [C16.320.565]
Amino Acid Metabolism, Inborn Errors [C16.320.565.100]
Alkaptonuria [C16.320.565.100.187]
Nutritional and Metabolic Diseases [C18]
Metabolic Diseases [C18.452]
Metabolism, Inborn Errors [C18.452.648]
Amino Acid Metabolism, Inborn Errors [C18.452.648.100]
Alkaptonuria [C18.452.648.100.187]

Below are MeSH descriptors whose meaning is related to "Alkaptonuria".

Below are MeSH descriptors whose meaning is more specific than "Alkaptonuria".

publications

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