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GTR Home > Conditions/Phenotypes > Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate

Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate

Summary

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). [from OMIM]

Available tests

6 tests are in the database for this condition.

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Clinical tests (6 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ARLIAK, NADC3, NaC3, SDCT2, SLC13A3
    Summary: solute carrier family 13 member 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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