Glutaric Acid

Optimal Result: 0 - 8.5 nmol/mg Creatinine.

Glutaric Acid (Glutarate) is endogenously produced in the catabolism of lysine and tryptophan.

- Increased Glutaric acid is associated with secondary carnitine deficiency.

- Glutaryl-CoA (from lysine or tryptophan) normally enters the Krebs cycle via transition to acetyl-CoA.

    » Glutaryl-CoA dehydrogenase (GCDH) + glutaryl-CoA + B2 → acetyl-CoA.

    » If GCDH is blocked, glutaryl-CoA + carnitine → elevated glutaric acid.

What does it mean if your Glutaric Acid result is too high?

Elevations of urinary glutaric acid may reflect enzymatic insufficiency requiring vitamin B2 or mitochondrial electron transport dysfunction. Deficiencies of the enzyme glutaryl-CoA dehydrogenase, and multiple acyl-CoA dehydrogenase deficiency (MADD), are well-studied inborn errors of metabolism which result in significant glutaric aciduria. However, milder forms of this rare mitochondrial disorder exist and can result in adult-onset presentations. Late-onset forms can present as atypical beta-oxidation disorders with exercise intolerance, muscle weakness, and CNS dysfunction. In these cases, riboflavin, carnitine, and CoQ10 have been used therapeutically.

Possible causes:

- Low B2

- Inborn error of metabolism

- Associated with CETP genetic polymorphism

Additional investigations:

- Red blood cell B2

- Genetic Diagnostic Testing

Treatment considerations:

- Supplement B2

- Consider mitochondrial support nutrients (e.g. CoQ10)

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