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Trait

Decreased blood isoleucine concentration

Clinical name: Hypoisoleucinemia

The concentration of isoleucine in the blood circulation is below the lower limit of normal.

HPO HP:0500144

Summary

Also called
Low blood isoleucine levels, Decreased isoleucine concentration, Decreased isoleucine level, Decreased isoleucine level in blood, Reduced isoleucine concentration, Reduced isoleucine level, Reduced isoleucine level in blood
Body system
Laboratory abnormality

1 gene linked to Decreased blood isoleucine concentration

Changes in these genes cause rare conditions in which Decreased blood isoleucine 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
BCKDKbranched chain keto acid dehydrogenase kinaseVery often (80–99%)In 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 isoleucine 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 2026.10.16-c6eea6bf.

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