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Trait

Increased CSF leucine concentration

Abnormally increased levels of leucine in cerebrospinal fluid.

HPO HP:0500191

Summary

Also called
High leucine levels in cerebrospinal fluid
Body system
Laboratory abnormalityAbnormality of the nervous system

1 gene linked to Increased CSF leucine concentration

Changes in these genes cause rare conditions in which Increased CSF 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
DLDdihydrolipoamide dehydrogenaseAlwaysIn 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 CSF 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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