Rare diseases · Sign or symptom
Hyperthreoninemia
High blood threonine levels
HP:0003354
What it means
The concentration of threonine in the blood circulation is above the upper limit of normal.
Rare diseases that can present with this1
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 circulating threonine · Elevated threonine concentration · Elevated threonine level · Elevated threonine level in blood · Increased threonine concentration · Increased threonine level · Increased threonine 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.