3-Methylglutarate

ChemistryAlso known as: 3-methylglutaric acidN/A

Detects the presence of 3-methylglutarate in serum or plasma, an organic acid metabolite.

Normal Range
Consult your provider
N/A
Abnormal Levels
Consult your provider
Specimen Type
Blood

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

72439-3Primary
3-Methylglutarate [Moles/volume] in Serum or Plasma
umol/L
29630-1
3-Methylglutarate [Presence] in Urine
72438-5
3-Methylglutarate [Moles/volume] in Cerebral spinal fluid
umol/L

Available Lab Tests

Order tests that measure this biomarker