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Abnormal CSF citrulline concentration

MedGen UID:: 1707934
•Concept ID:: C5139630
•: Finding

Synonym:	Abnormal citrulline levels in cerebrospinal fluid

HPO:	HP:0500245

Definition

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

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAbnormal CSF citrulline 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 citrulline concentration
        Increased CSF citrulline concentration

Recent clinical studies

Etiology

Amino acid concentration in dementia of the Alzheimer type and multi-infarct dementia.

Mochizuki Y, Oishi M, Hara M, Takasu T
Ann Clin Lab Sci 1996 May-Jun;26(3):275-8. PMID: 8726221

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

Clinical prediction guides

Amino acid concentration in dementia of the Alzheimer type and multi-infarct dementia.

Mochizuki Y, Oishi M, Hara M, Takasu T
Ann Clin Lab Sci 1996 May-Jun;26(3):275-8. PMID: 8726221

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