Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate
Synonyms: Acute reversible leukoencephalopathy due to SLC13A3 deficiency · Acute reversible leukoencephalopathy due to sodium-dependent dicarboxylate transporter deficiency
- Type
- Disease
- Group
- Disorder
- Age of onset
- Adult, Childhood
- Status
- active
A rare neurometabolic disease characterized by acute, reversible, and sometimes recurrent neurologic deterioration (including drowsiness, hypotonia, dysarthria, and ataxia) 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.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate | Acute reversible leukoencephalopathy due to SLC13A3 deficiency · Acute reversible leukoencephalopathy due to sodium-dependent dicarboxylate transporter deficiency |
| fr | Leucoencéphalopathie réversible aiguë avec augmentation de l'alpha-cétoglutarate urinaire | Leucoencéphalopathie aiguë réversible par déficit en SLC13A3 |
| de | Akute reversible Leukoenzephalopathie mit erhöhtem Alpha-Ketoglutarat im Urin | Akute reversible Leukoenzephalopathie durch natriumabhängigen Dicarboxylat-Transporter-Mangel · Akute reversible Leukoenzephalopathie durch SLC13A3-Defizienz |
| es | Leucoencefalopatía aguda reversible con aumento de alfa-cetoglutarato en orina | Leucoencefalopatía aguda reversible por deficiencia de SLC13A3 · Leucoencefalopatía aguda reversible por deficiencia del transportador de dicarboxilato dependiente de sodio |
| it | Leucoencefalopatia acuta reversibile con aumento di alfa-chetoglutarato nelle urine | Leucoencefalopatia acuta reversibile da deficit del trasportatore del dicarbossilato sodio-dipendente · Leucoencefalopatia acuta reversibile da deficit di SLC13A3 |
| nl | Acute reversibele leuko-encefalopathie met verhoogd alfa-ketoglutaraat in urine | Acute reversibele leuko-encefalopathie door SLC13A3-deficiëntie · Acute reversibele leuko-encefalopathie door deficiëntie van natriumafhankelijke dicarboxylaattransporter |
| pt | Leucoencefalopatia aguda reversível com aumento de alfa-cetoglutarato urinário | Leucoencefalopatia aguda reversível devido a deficiência SLC13A3 · Leucoencefalopatia aguda reversível devido a deficiência do transportador dicarboxilato sódio-dependente |
| pl | Ostra odwracalna leukoencefalopatia ze zwiększonym wydalaniem alfa-ketoglutaranu w moczu | = en |
| cs | Akutní reverzibilní leukoencefalopatie se zvýšenou hladinou alfa-ketoglutarátu v moči | = en |
| uk | Гостра оборотна лейкоенцефалопатія з підвищенням рівня альфа-кетоглутарату в сечі | Гостра оборотна лейкоенцефалопатія, спричинена дефіцитом SLC13A3 · Гостра оборотна лейкоенцефалопатія внаслідок дефіциту натрійзалежного дикарбоксилатного транспортера |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618384 | E | validated | |
| ICD-10 | E75.2 | NTBT | attributed | validated |
| ICD-11 | 5C53.1 | NTBT | attributed | validated |
| MONDO | 0032716 | E | validated | |
| UMLS | C5193068 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:254749Tricarboxylic acid cycle disorder
rare inborn errors of metabolism; rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 38235040[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 38235040[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/615964
- This record as JSON: /data/d/615964.json