Rare diseases · Sign or symptom

Hyperglutaminemia

High plasma glutamine

HP:0003217

What it means

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

Normal glutamine blood levels are around 550-600 micromole per liter.

Rare diseases that can present with this4

The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.

Part of the broader category

Also called: Elevated glutamine concentration · Elevated glutamine level · Elevated glutamine level in blood · Increased glutamine concentration · Increased glutamine level · Increased glutamine level in blood

Hyperglutaminemia

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This page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.