Rare diseases · Sign or symptom
Abnormal circulating pyruvate family amino acid concentration
HP:0010915
What it means
Any deviation from the normal concentration of pyruvate family amino acid in the blood circulation.
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: Abnormal pyruvate family amino acid level · Abnormality of pyruvate family amino acid metabolism
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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.