Optimal Result: 0 - 2 mmol/mol creatinine.

2-Hydroxyisovaleric acid (aka 2-Hydroxy-3-methylbutyric acid) is a branched-chain amino acid metabolite.

2-hydroxy-3-methylbutyric acid is a valine derivative that is valine in which the amino group has been replaced by a ‘hydroxy’ group.

What does it mean if your 2-Hydroxyisovaleric result is too high?

Moderate increase may result from:

- lactic acidosis

- episodic ketosis

- thiamine/lipoic acid deficiency

Patients with slight to moderate elevations may use dietary supplements containing thiamine to improve clinical symptoms.

Significant elevations are associated with:

- A significant increase of branched-chain amino acid metabolites is associated with the genetic disorders, maple syrup urine disease (MSUD) and pyruvate dehydrogenase deficiency.

- Elevated levels have been linked to short bowel syndrome.

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