Trait
High plasma glutamine
Clinical name: Hyperglutaminemia
The concentration of glutamine in the blood circulation is above the upper limit of normal.
Summary
- Also called
- Elevated glutamine concentration, Elevated glutamine level, Elevated glutamine level in blood, Increased glutamine concentration, Increased glutamine level, Increased glutamine level in blood
- Body system
- Laboratory abnormality
Reference genomeGRCh38hg38
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Get my Genome Test11 genes linked to High plasma glutamine
Changes in these genes cause rare conditions in which High plasma glutamine 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.
| Gene | How often it is seen | Conditions |
|---|---|---|
| ASS1argininosuccinate synthase 1 | Always | In 1 condition |
| GLSglutaminase | Always | In 1 condition |
| LIPT1lipoyltransferase 1 | Always | In 1 condition |
| NAGSN-acetylglutamate synthase | Always | In 2 conditions |
| ASLargininosuccinate lyase | Very often (80–99%) | In 2 conditions |
| CA5Acarbonic anhydrase 5A | Often (30–79%) | In 1 condition |
| COX16cytochrome c oxidase assembly factor COX16 | Often (30–79%) | In 1 condition |
| PCK1phosphoenolpyruvate carboxykinase 1 | Often (30–79%) | In 1 condition |
| PCK2phosphoenolpyruvate carboxykinase 2, mitochondrial | Often (30–79%) | In 1 condition |
| SLC7A7solute carrier family 7 member 7 | Often (30–79%) | In 1 condition |
| OTCornithine transcarbamylase | Sometimes (5–29%) | 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
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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