Rare diseases · Sign or symptom
Abnormal CSF pterin concentration
HP:0040207
What it means
Abnormal concentration of a pterin in the cerebrospinal fluid (CSF).
Pterin is a coenzyme that occurs in various forms, such as biopterin, folic acid, xanthopterin, or methanopterin.
Part of the broader category
Also called: Abnormal cerebrospinal fluid biopterin level · Abnormal CSF biopterin level
Abnormal CSF pterin concentration
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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.