Rare diseases · Sign or symptom
Hyperphenylalaninemia
HP:0004923
What it means
The concentration of L-phenylalanine in the blood circulation is above the upper limit of normal.
Rare diseases that can present with this3
Very common80–99%
2The 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 phenylalanine concentration · Elevated phenylalanine level · Elevated phenylalanine level in blood · Increased phenylalanine concentration · Increased phenylalanine level · Increased phenylalanine level in blood
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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.