Rare diseases · Sign or symptom

Dicarboxylic acidemia

HP:0040145

What it means

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

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 dicarboxylic acid concentration · Elevated dicarboxylic acid level · Elevated dicarboxylic acid level in blood · Increased dicarboxylic acid concentration · Increased dicarboxylic acid level · Increased dicarboxylic acid level in blood

Dicarboxylic acidemia

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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.