Rare diseases · Sign or symptom

Abnormal circulating proteinogenic amino acid concentration

HP:0033107

What it means

Any deviation from the normal concentration of proteinogenic amino acid in the blood circulation.

Proteinogenic amino acids are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine.

Part of the broader category

Also called: Abnormal proteinogenic amino acid level

Abnormal circulating proteinogenic amino…

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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.