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Abnormal CSF branched chain amino acid concentration

MedGen UID:: 1697847
•Concept ID:: C5139570
•: Finding

Synonym:	Abnormal branched-chain amino acid levels in cerbrospinal fluid

HPO:	HP:0500185

Definition

Any deviation from the normal concentration of branched-chain amino acids in the cerebrospinal fluid. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAbnormal CSF branched chain amino acid 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 branched chain amino acid concentration
        Abnormal CSF isoleucine concentration
        Decreased CSF isoleucine concentration
        Increased CSF isoleucine concentration
        Abnormal CSF leucine concentration
        Decreased CSF leucine concentration
        Increased CSF leucine concentration
        Abnormal CSF valine concentration
        Decreased CSF valine concentration
        Increased CSF valine concentration

Recent clinical studies

Etiology

Changes in free amino acids of cerebrospinal fluid and plasma in various neurological diseases.

Iijima K, Takase S, Tsumuraya K, Endo M, Itahara K
Tohoku J Exp Med 1978 Oct;126(2):133-50. doi: 10.1620/tjem.126.133. PMID: 715764

Clinical prediction guides

High resolution proton nuclear magnetic resonance studies of human cerebrospinal fluid.

Bell JD, Brown JC, Sadler PJ, Macleod AF, Sönksen PH, Hughes RD, Williams R
Clin Sci (Lond) 1987 May;72(5):563-70. doi: 10.1042/cs0720563. PMID: 3034477

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