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
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Start free with EleplanThis 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.