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3-Methylglutarate
Detects the presence of 3-methylglutarate in serum or plasma, an organic acid metabolite.
Why This Biomarker Matters
Elevated 3-methylglutarate indicates a rare amino acid metabolism disorder. Early diagnosis enables dietary management and specialist monitoring to prevent neurological complications.
Overview
3-methylglutarate is an organic acid that appears in urine when amino acid metabolism is disrupted. Elevated levels typically indicate 3-methylglutaconic aciduria, a rare inherited metabolic disorder affecting amino acid breakdown. This condition can cause neurological problems, muscle weakness, and developmental delays if left unmanaged. The presence of this compound warrants genetic testing and evaluation by a metabolic specialist to confirm the specific disorder and begin appropriate dietary and medical management.
Technical Information (LOINC Codes)
Standardized laboratory codes for this biomarker
72439-3Primary29630-172438-5Available Lab Tests
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