alcaptonuria

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Definitions from WordNet

Noun alcaptonuria has 1 sense

alkaptonuria, alcaptonuria - a rare recessive metabolic anomaly marked by ochronosis and the presence of alkapton in the urine
--₁ is a kind of metabolic disorder

Definitions from the Web

Alcaptonuria

Description:

Alcaptonuria is a rare genetic disorder in which the body is unable to break down certain amino acids properly, leading to a buildup of homogentisic acid in the urine and other body tissues. It is inherited in an autosomal recessive manner.

Examples:

Noun - Medical Condition:

He was diagnosed with alcaptonuria, a metabolic disorder that causes dark-colored urine.
Many individuals suffering from alcaptonuria experience joint pain and stiffness.

Noun - Genetics:

Alcaptonuria is caused by mutations in the HGD gene.
A genetic test can confirm the presence of alcaptonuria in an individual.

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