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leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate

MONDO:0032716

Also known as:acute reversible leukoencephalopathy due to SLC13A3 deficiencyacute reversible leukoencephalopathy due to sodium-dependent dicarboxylate transporter deficiencyacute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate

Overview

GeneticsAutosomal recessive · SLC13A3 (chr 20)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Progressive neurologic deterioration, Dysarthria, Ataxia, and Drowsiness; and common findings: Dysmetria, Shrinkage of the cerebellum (cerebellar atrophy), Febrile seizure (within the age range of 3 months to 6 years), and Generalized hypotonia and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Febrile seizure (within the age range of 3 months to 6 years), Dysarthria, Ataxia

Genetic Landscape

SLC13A3 function has not been fully characterized.

Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate is associated with mutations in the SLC13A3 gene on chromosome 20.

Diagnosis

Genetic testing for SLC13A3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 4 always present features, 11 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:57 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618384

Orphanet

European rare disease database

Orphanet:615964

GARD

Genetic and Rare Diseases Info Center

GARD:18035

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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