Skip to main content
Sign In

Denver Genetic Laboratories

3-Methylglutaconic Acid, Quantitative, Urine

Clinical Test Information - CHCO Biochemical Genetics Laboratory


CPT Code:



Monday - Friday, 0800 - 1700.

Turnaround Time:

7 days.

Minimum Volume:

1.0 mL (at least 2.0 mL preferred).

Specimen Handling:

Random urine, morning specimen preferred.  Freeze without preservative.

Interpretive Reference Range:

Normal ranges (age-dependant):

Age 0-2 years: 5.6 - 14.3 mmol/mol creatinine
Age 3-10 years: 1.8 - 4.2 mmol/mol creatinine
Adult: 1.3 - 2.6 mmol/mol creatinine


3-Methylglutaconyl-CoA is an intermediate in the mitochondrial oxidation of leucine.
3-Methylglutaconic acid and several other non-amino organic acids are increased in blood and urine in
3-hydroxy-3-methyl-glutaryl-CoA lyase deficiency. When not accompanied by 3-hydroxy-3-methylglutaric acid, however, increased 3-methylglutaconic acid occurs in several disorders. These include:
1. Recessively inherited deficiency of 3-methylglutaconyl-CoA hydratase, with a variable neurological or benign presentation.
2. Barth syndrome, an X-linked syndrome of cardiomyopathy, neutropenia, and growth retardation.
3. Costeff optic atrophy syndrome, consisting of recessively inherited optic atrophy, choreoathetosis, spastic paresis, cerebellar ataxia and nystagmus.
4. Patients with multiple organ involvement, progressive neurological impairment and biochemical evidence of a respiratory chain defect.
5. Recessively inherited deficiency of DNAJC19, characterized by dilated cardiomyopathy and ataxia.


Stable isotope dilution gas chromatography-mass spectrometry (GC/MS).