Rare diseases · Sign or symptom

Increased circulating argininosuccinic acid

HP:0032491

What it means

An increased level of the non-proteinogenic amino acid argininosuccinic acid in the blood circulation.

Argininosuccinic acid is an 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

Increased circulating argininosuccinic…

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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.