Uracil
Measures uracil levels in blood as a marker of pyrimidine metabolism.
Why This Biomarker Matters
Elevated uracil is rare but can indicate uracil-5-carboxylase deficiency, a genetic metabolic disorder. Early detection through newborn screening allows for dietary management and medical intervention to prevent neurological complications.
Overview
Uracil is a nucleobase (building block of RNA) that circulates at low levels in the bloodstream. Elevated uracil levels can indicate uracil-5-carboxylase deficiency, a rare metabolic disorder affecting pyrimidine metabolism. Patients with this deficiency may experience delayed development, microcephaly, or other neurological symptoms. Testing uracil levels helps diagnose rare inborn errors of metabolism. Most individuals have undetectable or very low uracil, so any elevation warrants further metabolic investigation.
Technical Information (LOINC Codes)
Standardized laboratory codes for this biomarker
75152-9Primary30485-775128-996043-5Available Lab Tests
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