Hyperisoleucinemia

What it means

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

Normal isoleucine blood levels are around 60-80 micromole per liter.

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 isoleucine concentration · Elevated isoleucine level · Elevated isoleucine level in blood · Increased isoleucine concentration · Increased isoleucine level · Increased isoleucine level in blood