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3-Methylcrotonylglycine
Detects 3-methylcrotonylglycine in serum or plasma, indicating leucine metabolism disorder.
Why This Biomarker Matters
Presence suggests branched-chain amino acid metabolism disorder requiring specialized dietary management and monitoring to prevent serious metabolic complications.
Overview
3-Methylcrotonylglycine is a metabolite detected in urine that indicates abnormal metabolism of the amino acid leucine. Elevated levels suggest possible 3-methylcrotonyl-CoA carboxylase deficiency, a genetic metabolic disorder affecting how your body processes branched-chain amino acids. This condition can cause developmental delay, low muscle tone, and metabolic acidosis if untreated. Early detection through newborn screening allows for dietary management. This test is part of comprehensive metabolic screening, especially in newborns.
Research & Evidence
10 publications
Research data from MEDLINE/PubMed · 10 articles
Technical Information (LOINC Codes)
Standardized laboratory codes for this biomarker
41039-9Primary29628-540848-440927-672441-972442-7Available Lab Tests
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