ARLIAK
MCID: LKN027
MIFTS: 12

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

Categories: Genetic diseases, Nephrological diseases, Neuronal diseases

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 58 6
Arliak 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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:



External Ids:

OMIM 58 618384

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

OMIM : 58 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)

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.

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

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

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
ataxia
dysarthria
drowsiness
abnormal movements
encephalopathy, acute
more
Muscle Soft Tissue:
hypotonia

Laboratory Abnormalities:
increased csf lactate
increased urinary dicarboxylic acids
increased urinary alpha-ketoglutarate
increased urinary fumarate
increased urinary succinate
more

Clinical features from OMIM:

618384

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...

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

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

42
Brain

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

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

# Title Authors Year
1
SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation. ( 30635937 )
2019

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

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC13A3 NM_001011554.2(SLC13A3): c.620C> A (p.Ala207Asp) single nucleotide variant Pathogenic GRCh37 Chromosome 20, 45224829: 45224829
2 SLC13A3 NM_001011554.2(SLC13A3): c.620C> A (p.Ala207Asp) single nucleotide variant Pathogenic GRCh38 Chromosome 20, 46596190: 46596190
3 SLC13A3 NM_001011554.2(SLC13A3): c.1501G> A (p.Gly501Ser) single nucleotide variant Pathogenic GRCh37 Chromosome 20, 45188828: 45188828
4 SLC13A3 NM_001011554.2(SLC13A3): c.1501G> A (p.Gly501Ser) single nucleotide variant Pathogenic GRCh38 Chromosome 20, 46560189: 46560189
5 SLC13A3 NM_001011554.2(SLC13A3): c.875+3A> G single nucleotide variant Pathogenic GRCh37 Chromosome 20, 45217796: 45217796
6 SLC13A3 NM_001011554.2(SLC13A3): c.875+3A> G single nucleotide variant Pathogenic GRCh38 Chromosome 20, 46589157: 46589157

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...

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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