Rare diseases · Sign or symptom

Decreased circulating carnitine concentration

Decreased plasma carnitine

HP:0003234

What it means

Concentration of carnitine in the blood circulation below the lower limit of normal.

Carnitine is responsible for the transport of fatty acids from the cytosol into the mitochondria.

Rare diseases that can present with this11

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: Carnitine deficiency

Decreased circulating carnitine…

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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.