Elevated CSF alpha-ketoglutarate concentration

MedGen UID:: 1052707
•Concept ID:: CN377300
•: Finding

HPO:	HP:6000468

Definition

The concentration of alpha-ketoglutarate in the cerebrospinal fluid (CSF) is above the upper limit of normal. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVElevated CSF alpha-ketoglutarate concentration

Abnormality of the nervous system
- Abnormal nervous system morphology
  - Morphological central nervous system abnormality
    - Abnormal cerebrospinal fluid morphology
      - Abnormal CSF metabolite concentration
        Abnormal CSF carboxylic acid concentration
        Elevated CSF alpha-ketoglutarate concentration

Conditions with this feature

Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate

MedGen UID:: 1677730
•Concept ID:: C5193068
•: Disease or Syndrome

Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate (ARLIAK) is an autosomal recessive disorder characterized by acute reversible neurologic deterioration in the context of a febrile illness. The disorder is associated with transient leukoencephalopathy on brain imaging concurrent with the acute episode, as well as persistently increased excretion of dicarboxylic acids, particularly alpha-ketoglutarate (summary by Dewulf et al., 2019).

See: Condition Record

Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate