alkaptonuria

[US]//ˌælkæpˈtɒn.jʊə//
[UK]//ˌælkæpˈtɑːnʊriə//

Translation

n.a rare inherited metabolic disorder characterized by the inability to break down homogentisic acid, leading to its accumulation in connective tissue and causing ochronosis and arthritis
Word Forms

Phrases & Collocations

alkaptonuria patient

alkaptonuria diagnosis

alkaptonuria treatment

alkaptonuria symptoms

alkaptonuria research

alkaptonuria cause

alkaptonuria test

alkaptonuria disease

alkaptonuria condition

alkaptonuria inheritance

Example Sentences

doctors diagnosed the patient with alkaptonuria after observing dark urine.

alkaptonuria is a rare inherited disorder caused by a gene mutation.

symptoms of alkaptonuria include dark staining of the patient's clothing.

there is currently no specific cure for alkaptonuria available to patients.

diagnosis of alkaptonuria is confirmed through specific urine tests.

researchers are studying new treatments for alkaptonuria to manage symptoms.

the genetic basis of alkaptonuria involves the hgd gene.

patients with alkaptonuria often experience joint pain in adulthood.

long-term management of alkaptonuria requires a specialized medical team.

alkaptonuria is characterized by the accumulation of homogentisic acid in the body.

exposure to air causes the urine of alkaptonuria patients to darken.

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