Rare diseases · Sign or symptom
Reduced hepatic beta-ureidopropionase activity
HP:6000082
What it means
Activity of beta-ureidopropionase in the liver below the lower limit of normal.
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: Liver biopsy: beta-ureidopropionase activity low
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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.