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Glutarate
Detects the presence of glutarate in serum or plasma, a lysine and tryptophan metabolite.
Why This Biomarker Matters
Elevated glutarate indicates glutaric aciduria, a serious metabolic disorder. Early diagnosis and specialized dietary management prevent progressive neurological damage and disability.
Overview
Glutarate is an organic acid that accumulates in urine when lysine and tryptophan metabolism is disrupted. Elevated urinary glutarate indicates glutaric aciduria, a rare inherited metabolic disorder. This condition can cause progressive neurological damage, developmental delays, movement disorders, and brain degeneration if left untreated. Early detection through newborn screening is critical, but this test may identify missed cases in older individuals. Positive results require prompt evaluation and specialized metabolic management.
Research & Evidence
5 publications
Research data from MEDLINE/PubMed · 5 articles
Technical Information (LOINC Codes)
Standardized laboratory codes for this biomarker
35133-8Primary30474-127301-154278-782504-2Available Lab Tests
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