ARLIAK
MCID: LKN027
MIFTS: 23

Leukoencephalopathy, Acute Reversible, with Increased Urinary Alpha-Ketoglutarate (ARLIAK)

Categories: Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Leukoencephalopathy, Acute Reversible, with Increased Urinary...

MalaCards integrated aliases for Leukoencephalopathy, Acute Reversible, with Increased Urinary Alpha-Ketoglutarate:

Name: Leukoencephalopathy, Acute Reversible, with Increased Urinary Alpha-Ketoglutarate 57 73 28 5 38 16
Arliak 57 73
Acute Reversible Leukoencephalopathy Due to Sodium-Dependent Dicarboxylate Transporter Deficiency 58
Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-Ketoglutarate 58
Acute Reversible Leukoencephalopathy Due to Slc13a3 Deficiency 58

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
two unrelated patients have been reported (last curated april 2019)
episodes are triggered by febrile illness
symptoms during the acute illness mostly resolve
variable severity and persistence of abnormal neurologic symptoms


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

OMIM® 57 618384
MeSH 43 D056784
UMLS via Orphanet 72 C5193068
Orphanet 58 ORPHA615964

Summaries for Leukoencephalopathy, Acute Reversible, with Increased Urinary...

OMIM®: 57 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). (618384) (Updated 08-Dec-2022)

MalaCards based summary: Leukoencephalopathy, Acute Reversible, with Increased Urinary Alpha-Ketoglutarate, is also known as arliak. An important gene associated with Leukoencephalopathy, Acute Reversible, with Increased Urinary Alpha-Ketoglutarate is SLC13A3 (Solute Carrier Family 13 Member 3). Affiliated tissues include brain, and related phenotypes are dysarthria and dysmetria

UniProtKB/Swiss-Prot: 73 An autosomal recessive disorder characterized by acute, reversible neurological deterioration during febrile illness. Patients exhibit reversible leukoencephalopathy and increased urinary excretion of alpha-ketoglutarate.

Related Diseases for Leukoencephalopathy, Acute Reversible, with Increased Urinary...

Symptoms & Phenotypes for Leukoencephalopathy, Acute Reversible, with Increased Urinary...

Human phenotypes related to Leukoencephalopathy, Acute Reversible, with Increased Urinary Alpha-Ketoglutarate:

30 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 30 Very rare (1%) HP:0001260
2 dysmetria 30 Very rare (1%) HP:0001310
3 increased csf lactate 30 Very rare (1%) HP:0002490
4 cerebellar atrophy 30 Very rare (1%) HP:0001272
5 progressive neurologic deterioration 30 Very rare (1%) HP:0002344
6 abnormal cerebral white matter morphology 30 Very rare (1%) HP:0002500
7 generalized hypotonia 30 Very rare (1%) HP:0001290
8 drowsiness 30 Very rare (1%) HP:0002329
9 increased urine alpha-ketoglutarate concentration 30 Very rare (1%) HP:0012402
10 csf pleocytosis 30 Very rare (1%) HP:0012229
11 febrile seizure (within the age range of 3 months to 6 years) 30 Very rare (1%) HP:0002373
12 elevated urinary n-acetylaspartic acid level 30 Very rare (1%) HP:0032272
13 increased urine succinate level 30 Very rare (1%) HP:0033092

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
ataxia
dysarthria
drowsiness
abnormal movements
encephalopathy, acute
more
Laboratory Abnormalities:
increased csf lactate
increased urinary dicarboxylic acids
increased urinary alpha-ketoglutarate
increased urinary fumarate
increased urinary succinate
more
Muscle Soft Tissue:
hypotonia

Clinical features from OMIM®:

618384 (Updated 08-Dec-2022)

Drugs & Therapeutics for Leukoencephalopathy, Acute Reversible, with Increased Urinary...

Search Clinical Trials, NIH Clinical Center for Leukoencephalopathy, Acute Reversible, with Increased Urinary Alpha-Ketoglutarate

Genetic Tests for Leukoencephalopathy, Acute Reversible, with Increased Urinary...

Genetic tests related to Leukoencephalopathy, Acute Reversible, with Increased Urinary Alpha-Ketoglutarate:

# Genetic test Affiliating Genes
1 Leukoencephalopathy, Acute Reversible, with Increased Urinary Alpha-Ketoglutarate 28 SLC13A3

Anatomical Context for Leukoencephalopathy, Acute Reversible, with Increased Urinary...

Organs/tissues related to Leukoencephalopathy, Acute Reversible, with Increased Urinary Alpha-Ketoglutarate:

MalaCards : Brain

Publications for Leukoencephalopathy, Acute Reversible, with Increased Urinary...

Articles related to Leukoencephalopathy, Acute Reversible, with Increased Urinary Alpha-Ketoglutarate:

# Title Authors PMID Year
1
SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation. 57 5
30635937 2019
2
Covid-19: Possible trigger of SLC13A3 reversible leukoencephalopathy relapse? 57
35527102 2022
3
Case Report: Compound Heterozygous Variants of SLC13A3 Identified in a Chinese Patient With Acute Reversible Leukoencephalopathy and α-Ketoglutarate Accumulation. 62
34966709 2021

Variations for Leukoencephalopathy, Acute Reversible, with Increased Urinary...

ClinVar genetic disease variations for Leukoencephalopathy, Acute Reversible, with Increased Urinary Alpha-Ketoglutarate:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC13A3 NM_022829.6(SLC13A3):c.761C>A (p.Ala254Asp) SNV Pathogenic
625424 rs1568927501 GRCh37: 20:45224829-45224829
GRCh38: 20:46596190-46596190
2 SLC13A3 NM_022829.6(SLC13A3):c.1642G>A (p.Gly548Ser) SNV Pathogenic
625425 rs1568904872 GRCh37: 20:45188828-45188828
GRCh38: 20:46560189-46560189
3 SLC13A3 NM_022829.6(SLC13A3):c.1016+3A>G SNV Pathogenic
625426 rs199961976 GRCh37: 20:45217796-45217796
GRCh38: 20:46589157-46589157
4 SLC13A3 NM_022829.6(SLC13A3):c.1106G>A (p.Ser369Asn) SNV Uncertain Significance
1028783 rs758830291 GRCh37: 20:45216713-45216713
GRCh38: 20:46588074-46588074
5 SLC13A3 NM_022829.6(SLC13A3):c.1637G>A (p.Arg546Gln) SNV Uncertain Significance
161765 rs188700676 GRCh37: 20:45188833-45188833
GRCh38: 20:46560194-46560194
6 SLC13A3 NM_022829.6(SLC13A3):c.1278C>T (p.Pro426=) SNV Benign
1168840 GRCh37: 20:45204266-45204266
GRCh38: 20:46575627-46575627
7 SLC13A3 NM_022829.6(SLC13A3):c.207C>G (p.Leu69=) SNV Benign
1169472 GRCh37: 20:45242269-45242269
GRCh38: 20:46613630-46613630

UniProtKB/Swiss-Prot genetic disease variations for Leukoencephalopathy, Acute Reversible, with Increased Urinary Alpha-Ketoglutarate:

73
# Symbol AA change Variation ID SNP ID
1 SLC13A3 p.Ala254Asp VAR_082121 rs1568927501
2 SLC13A3 p.Gly548Ser VAR_082122 rs1568904872

Expression for Leukoencephalopathy, Acute Reversible, with Increased Urinary...

Search GEO for disease gene expression data for Leukoencephalopathy, Acute Reversible, with Increased Urinary Alpha-Ketoglutarate.

Pathways for Leukoencephalopathy, Acute Reversible, with Increased Urinary...

GO Terms for Leukoencephalopathy, Acute Reversible, with Increased Urinary...

Sources for Leukoencephalopathy, Acute Reversible, with Increased Urinary...

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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