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2-hydroxy-3-methylbutyric acid is a valine derivative that is valine in which the amino group has been replaced by a ‘hydroxy’ group.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