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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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.