alkaptonuria

noun

Pronunciation: ˌælkæptəˈnjʊəriə

Definition

A rare genetic metabolic disorder that prevents the body from fully breaking down the amino acids tyrosine and phenylalanine, leading to the accumulation of homogentisic acid.

Examples

• Patients with alkaptonuria often experience joint pain and cartilage damage as they age.

• The characteristic dark urine is the most common early clinical sign of alkaptonuria.

• Researchers are currently investigating new enzyme replacement therapies to manage the long-term effects of alkaptonuria.

Synonyms of alkaptonuria

Words with a similar meaning to alkaptonuria:

• black urine disease
• ochronosis

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