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2-hydroxy-3-methylbutyric acid is a valine derivative that is valine in which the amino group has been replaced by a ‘hydroxy’ group.
A moderate increase of branched-chain amino acid metabolites in urine may result from lactic acidosis, episodic ketosis, or deficiencies of the vitamins, thiamine or lipoic acid. A significant increase of branched-chain amino acid metabolites is associated with the genetic disorders, maple syrup urine disease (MSUD) and pyruvate dehydrogenase deficiency. Patients with slight to moderate elevations may use dietary supplements containing thiamine to improve clinical symptoms.
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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