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Trait

High blood valine concentration

Clinical name: Hypervalinemia

The concentration of valine in the blood circulation is above the upper limit of normal.

HPO HP:0010910

Summary

Also called
Elevated valine concentration, Elevated valine level, Elevated valine level in blood, Increased valine concentration, Increased valine level, Increased valine level in blood
Body system
Laboratory abnormality

4 genes linked to High blood valine concentration

Changes in these genes cause rare conditions in which High blood valine concentration is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.

GeneHow often it is seenConditions
ATP5F1BATP synthase F1 subunit betaAlwaysIn 1 condition
BCAT2branched chain amino acid transaminase 2AlwaysIn 1 condition
BCKDHBbranched chain keto acid dehydrogenase E1 subunit betaAlwaysIn 1 condition
MICU1mitochondrial calcium uptake 1AlwaysIn 1 condition

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Broader traits

Abnormal circulating valine concentration

Where this comes from

  • The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
  • Data release 2026.10.17-8666dff2.

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