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Homogentisate
Detects the presence of homogentisate in urine, a metabolic byproduct.
Why This Biomarker Matters
The presence of homogentisate suggests alkaptonuria, a rare genetic disorder. Early identification enables dietary management and medical monitoring to prevent complications like arthritis and cardiovascular issues.
Overview
Homogentisate is an organic compound that appears in urine when your body breaks down certain amino acids. Elevated urinary homogentisate typically indicates alkaptonuria, a rare inherited metabolic disorder. In this condition, the enzyme responsible for breaking down homogentisate is deficient, causing accumulation. Alkaptonuria can lead to dark urine, darkening of connective tissues, and arthritis if undiagnosed. Early detection through this test allows for dietary management and monitoring to slow disease progression.
Technical Information (LOINC Codes)
Standardized laboratory codes for this biomarker
2432-3Primary2433-151705-251800-1Available Lab Tests
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