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Trait

High blood leucine concentration

Clinical name: Hyperleucinemia

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

HPO HP:0010911

Summary

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

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

6 genes linked to High blood leucine concentration

Changes in these genes cause rare conditions in which High blood leucine 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
MCCC1methylcrotonyl-CoA carboxylase subunit 1AlwaysIn 1 condition
PPM1Kprotein phosphatase, Mg2+/Mn2+ dependent 1KAlwaysIn 1 condition
MCCC2methylcrotonyl-CoA carboxylase subunit 2Often (30–79%)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 leucine 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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