Rare diseases · Sign or symptom

Elevated urine fumaric acid level

HP:0034648

What it means

The concentration of fumaric acid in the urine, normalized for urine concentration, is above the upper limit of normal.

Rare diseases that can present with this2

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 urine fumarate level

Elevated urine fumaric acid level

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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.