ORPHA:615964
Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate
Also known as: Acute reversible leukoencephalopathy due to SLC13A3 deficiency · Acute reversible leukoencephalopathy due to sodium-dependent dicarboxylate transporter deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
3
15.2th percentile
Trials
0
Interventional, condition-specific
Researchers
97
Distinct authors in sample
Gene link
SLC13A3
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare neurometabolic disease characterized by acute, reversible, and sometimes recurrent neurologic deterioration (including drowsiness, , dysarthria, and ) during a febrile illness. The condition is associated with reversible leukoencephalopathy and persistently increased urinary excretion (and sometimes cerebrospinal fluid concentration) mainly of alpha-ketoglutarate and N-acetylaspartate.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0032716
- OMIM:618384
- UMLS:C5193068
Additional Mondo synonyms (3)
acute reversible leukoencephalopathy due to SLC13A3 deficiency · acute reversible leukoencephalopathy due to sodium-dependent dicarboxylate transporter deficiency · acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — SLC13A3
- LiteraturePresent
3 matched papers (3 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (SLC13A3).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
3
3 papers have ever been indexed under this name. For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
3 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
3 in the last 10 years · high confidence · 15.2th percentile (publications denominator)
Phrase hits: 3 · MeSH hits: 0
Who's working on it?
97
Distinct author names in 3 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Adams HHH1 paper · 2023
Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands. h.adams@erasmusmc.nl.
Papers in Europe PMC - 02Armstrong NJ1 paper · 2023
Department of Mathematics and Statistics, Curtin University, Perth, Western Australia, Australia.
Papers in Europe PMC - 03Baker PR 2nd1 paper · 2023
From the Division of Pediatric Neurology, Department of Pediatrics (KNW, JLB) and Division of Genetics, Department of Pediatrics (LDB), University of Utah School of Medicine, Salt Lake City; Division of Laboratory Medicine, Department of Pathology and Laboratory Medicine (MH), Children's Hospital of Philadelphia, PA; Division of Clinical Genetics and Metabolism, Department of Pediatrics (PRB), University of Colorado School of Medicine, Aurora; Department of Neurology (ALV), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Division of Neurology (ALV), Children's Hospital of Philadelphia, PA; Center for Personalized Medicine (JLB), Primary Children's Hospital, Salt Lake City, UT.
Papers in Europe PMC - 04Bastin ME1 paper · 2023
Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh, UK.
Papers in Europe PMC - 05Beiser A1 paper · 2023
Department of Neurology, Boston University School of Medicine, Boston, MA, USA.
Papers in Europe PMC - 06Bonkowsky JL1 paper · 2023
From the Division of Pediatric Neurology, Department of Pediatrics (KNW, JLB) and Division of Genetics, Department of Pediatrics (LDB), University of Utah School of Medicine, Salt Lake City; Division of Laboratory Medicine, Department of Pathology and Laboratory Medicine (MH), Children's Hospital of Philadelphia, PA; Division of Clinical Genetics and Metabolism, Department of Pediatrics (PRB), University of Colorado School of Medicine, Aurora; Department of Neurology (ALV), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Division of Neurology (ALV), Children's Hospital of Philadelphia, PA; Center for Personalized Medicine (JLB), Primary Children's Hospital, Salt Lake City, UT.
Papers in Europe PMC - 07Bordes C1 paper · 2023
Bordeaux Population Health Research Center, UMR 1219, University of Bordeaux, Inserm, Bordeaux, France.
Papers in Europe PMC - 08Botto LD1 paper · 2023
From the Division of Pediatric Neurology, Department of Pediatrics (KNW, JLB) and Division of Genetics, Department of Pediatrics (LDB), University of Utah School of Medicine, Salt Lake City; Division of Laboratory Medicine, Department of Pathology and Laboratory Medicine (MH), Children's Hospital of Philadelphia, PA; Division of Clinical Genetics and Metabolism, Department of Pediatrics (PRB), University of Colorado School of Medicine, Aurora; Department of Neurology (ALV), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Division of Neurology (ALV), Children's Hospital of Philadelphia, PA; Center for Personalized Medicine (JLB), Primary Children's Hospital, Salt Lake City, UT.
Papers in Europe PMC - 09Bourgey M1 paper · 2023
Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
Papers in Europe PMC - 10Bourque G1 paper · 2023
Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate" OR "Acute reversible leukoencephalopathy due to SLC13A3 deficiency" OR "Acute reversible leukoencephalopathy due to sodium-dependent dicarboxylate transporter deficiency"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate" OR "Acute reversible leukoencephalopathy due to SLC13A3 deficiency" OR "Acute reversible leukoencephalopathy due to sodium-dependent dicarboxylate transporter deficiency" OR "SLC13A3"
Recall-expansion terms: SLC13A3
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T19:04:18.084Z