Citrullinuria

What it means

The amount of citrulline in the urine, when normalized for urine concentration, is above the upper limit of normal.

Citrulline is an alpha-amino acid that is a key intermediate in the urea cycle.

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: Citrulline high in urine