Rare diseases · Sign or symptom

Hyperlysinemia

Elevated blood lysine

HP:0002161

What it means

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

Normal blood lysine levels are around 180-200 micromole per liter.

Rare diseases that can present with this5

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 lysine concentration · Elevated lysine level · Elevated lysine level in blood · Increased lysine concentration · Increased lysine level · Increased lysine level in blood

Hyperlysinemia

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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.