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
Common30–79%
5The 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
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Start free with EleplanThis 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.