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Abnormal CSF ornithine concentration

MedGen UID:: 1693427
•Concept ID:: C5139628
•: Finding

Synonym:	Abnormal ornithine levels in cerebrospinal fluid

HPO:	HP:0500243

Definition

Any deviation from the normal concentration of ornithine in the cerebrospinal fluid. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAbnormal CSF ornithine concentration

Abnormal nervous system morphology
- Morphological central nervous system abnormality
  - Abnormal cerebrospinal fluid morphology
    - Abnormal CSF metabolite concentration
      - Abnormal CSF carboxylic acid concentration
        Abnormal CSF amino acid concentration
        Abnormal CSF ornithine concentration
        Increased CSF ornithine concentration

Recent clinical studies

Therapy

An unusual aminoacidopathy associated with mitochondrial encephalomyopathy.

Perry TL, Hansen S, Booth FA, Penn AM, Jones K, Dilling LA
J Inherit Metab Dis 1989;12(1):23-32. doi: 10.1007/BF01805527. PMID: 2501579

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