MCID: NRM022
MIFTS: 25

Neurometabolic Disease

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Neurometabolic Disease

MalaCards integrated aliases for Neurometabolic Disease:

Name: Neurometabolic Disease 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Orphanet 58 ORPHA68385

Summaries for Neurometabolic Disease

MalaCards based summary : Neurometabolic Disease is related to dystonia and cerebral creatine deficiency syndrome 2. An important gene associated with Neurometabolic Disease is GAMT (Guanidinoacetate N-Methyltransferase), and among its related pathways/superpathways are Metabolism and Viral mRNA Translation. Affiliated tissues include brain, skeletal muscle and bone marrow, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Related Diseases for Neurometabolic Disease

Diseases related to Neurometabolic Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 104)
# Related Disease Score Top Affiliating Genes
1 dystonia 28.8 SLC6A8 GATM GAMT
2 cerebral creatine deficiency syndrome 2 28.7 SLC6A8 GATM GAMT
3 creatine deficiency syndromes 28.7 SLC6A8 GATM GAMT
4 epilepsy 28.6 SLC6A8 GAMT ALDH5A1
5 cerebral creatine deficiency syndrome 1 28.5 SLC6A8 GATM GAMT
6 syndromic neurometabolic disease with x-linked intellectual disability 12.3
7 syndromic neurometabolic disease with non-x-linked intellectual disability 12.3
8 deafness, dystonia, and cerebral hypomyelination 11.1
9 brain dopamine-serotonin vesicular transport disease 11.1
10 leukodystrophy 10.2
11 inherited metabolic disorder 10.2
12 adrenomyeloneuropathy 10.2
13 hypotonia 10.2
14 metachromatic leukodystrophy 10.1
15 adrenoleukodystrophy 10.1
16 lysosomal storage disease 10.1
17 encephalopathy 10.1
18 succinic semialdehyde dehydrogenase deficiency 10.1
19 ataxia and polyneuropathy, adult-onset 10.1
20 niemann-pick disease 10.1
21 niemann-pick disease, type c1 10.0
22 xanthomatosis 10.0
23 propionic acidemia 10.0
24 neurodegeneration due to cerebral folate transport deficiency 10.0
25 neuronal ceroid lipofuscinosis 10.0
26 methylmalonic acidemia 10.0
27 movement disease 10.0
28 homocystinuria 10.0
29 mucopolysaccharidoses 10.0
30 adenylosuccinase deficiency 9.8
31 amyotrophic lateral sclerosis 1 9.8
32 schizophrenia 9.8
33 alexander disease 9.8
34 aspartylglucosaminuria 9.8
35 cerebrotendinous xanthomatosis 9.8
36 ceroid storage disease 9.8
37 chondrodysplasia punctata syndrome 9.8
38 galactosemia i 9.8
39 l-2-hydroxyglutaric aciduria 9.8
40 vici syndrome 9.8
41 3-hydroxy-3-methylglutaryl-coa lyase deficiency 9.8
42 mannosidosis, alpha b, lysosomal 9.8
43 maple syrup urine disease 9.8
44 3-methylglutaconic aciduria, type i 9.8
45 methylmalonic aciduria, cblb type 9.8
46 mucopolysaccharidosis, type iva 9.8
47 mucopolysaccharidosis, type vii 9.8
48 myoclonic epilepsy of lafora 9.8
49 leigh syndrome 9.8
50 neuraminidase deficiency 9.8

Graphical network of the top 20 diseases related to Neurometabolic Disease:



Diseases related to Neurometabolic Disease

Symptoms & Phenotypes for Neurometabolic Disease

GenomeRNAi Phenotypes related to Neurometabolic Disease according to GeneCards Suite gene sharing:

26 (show all 38)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 10.13 SLC6A8
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-120 10.13 SLC6A8
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-132 10.13 SLC6A8
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-137 10.13 SLC6A8
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-143 10.13 GAMT
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 10.13 GAMT
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-187 10.13 SLC6A8
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 10.13 GAMT
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 10.13 GAMT
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 10.13 SLC6A8
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-214 10.13 GAMT
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-52 10.13 SLC6A8
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-63 10.13 GAMT
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-67 10.13 GAMT SLC6A8
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-74 10.13 SLC6A8
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 10.13 GAMT
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-9 10.13 GAMT
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 10.13 SLC6A8
19 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.13 SLC6A8
20 Increased shRNA abundance (Z-score > 2) GR00366-A-124 10.13 GAMT
21 Increased shRNA abundance (Z-score > 2) GR00366-A-126 10.13 GATM
22 Increased shRNA abundance (Z-score > 2) GR00366-A-158 10.13 GATM
23 Increased shRNA abundance (Z-score > 2) GR00366-A-159 10.13 GATM
24 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.13 GAMT
25 Increased shRNA abundance (Z-score > 2) GR00366-A-167 10.13 GAMT
26 Increased shRNA abundance (Z-score > 2) GR00366-A-193 10.13 GAMT
27 Increased shRNA abundance (Z-score > 2) GR00366-A-200 10.13 GAMT
28 Increased shRNA abundance (Z-score > 2) GR00366-A-211 10.13 GAMT
29 Increased shRNA abundance (Z-score > 2) GR00366-A-213 10.13 GAMT
30 Increased shRNA abundance (Z-score > 2) GR00366-A-22 10.13 GATM
31 Increased shRNA abundance (Z-score > 2) GR00366-A-27 10.13 GAMT
32 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.13 GAMT
33 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.13 GATM
34 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.13 GAMT
35 Increased shRNA abundance (Z-score > 2) GR00366-A-84 10.13 GATM
36 Increased shRNA abundance (Z-score > 2) GR00366-A-88 10.13 GAMT
37 Increased shRNA abundance (Z-score > 2) GR00366-A-9 10.13 SLC6A8
38 Upregulation of RLR pathway after Sendai virus (SeV) infection GR00302-A 8.32 GATM

MGI Mouse Phenotypes related to Neurometabolic Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 8.92 ALDH5A1 GAMT GATM SLC6A8

Drugs & Therapeutics for Neurometabolic Disease

Search Clinical Trials , NIH Clinical Center for Neurometabolic Disease

Genetic Tests for Neurometabolic Disease

Anatomical Context for Neurometabolic Disease

MalaCards organs/tissues related to Neurometabolic Disease:

40
Brain, Skeletal Muscle, Bone Marrow, Bone, Skin

Publications for Neurometabolic Disease

Articles related to Neurometabolic Disease:

(show top 50) (show all 136)
# Title Authors PMID Year
1
Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant. 61
31527857 2020
2
Novel NAXE variants as a cause for neurometabolic disorder: implications for treatment. 61
31745726 2020
3
Potential complementation effects of two disease-associated mutations in tetrameric glutaryl-CoA dehydrogenase is due to inter subunit stability-activity counterbalance. 61
31491587 2020
4
Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration. 61
31855247 2020
5
Pathogenesis of brain damage in glutaric acidemia type I: Lessons from the genetic mice model. 61
31125684 2019
6
Involvement of the Cholinergic Parameters and Glial Cells in Learning Delay Induced by Glutaric Acid: Protection by N-Acetylcysteine. 61
30421167 2019
7
Daily Functioning and Quality of Life in Patients with Sjögren-Larsson Syndrome. 61
30609437 2019
8
The Role of Oxidative Stress and Bioenergetic Dysfunction in Sulfite Oxidase Deficiency: Insights from Animal Models. 61
30515714 2019
9
Long Lasting High Lysine Diet Aggravates White Matter Injury in Glutaryl-CoA Dehydrogenase Deficient (Gcdh-/-) Mice. 61
29779173 2019
10
Parkinsonism in neurometabolic diseases. 61
31779820 2019
11
The quaternary structure of human tyrosine hydroxylase: effects of dystonia-associated missense variants on oligomeric state and enzyme activity. 61
30411798 2019
12
Mutated SUCLG1 causes mislocalization of SUCLG2 protein, morphological alterations of mitochondria and an early-onset severe neurometabolic disorder. 61
30470562 2019
13
Antisense oligonucleotides modulate dopa decarboxylase function in aromatic l-amino acid decarboxylase deficiency. 61
30260058 2018
14
Oxidative Imbalance, Nitrative Stress, and Inflammation in C6 Glial Cells Exposed to Hexacosanoic Acid: Protective Effect of N-acetyl-L-cysteine, Trolox, and Rosuvastatin. 61
30302628 2018
15
Nonketotic hyperglycinemia: Clinical range and outcome of a rare neurometabolic disease in a single-center. 61
29929752 2018
16
NAD(P)HX repair deficiency causes central metabolic perturbations in yeast and human cells. 61
30098110 2018
17
A Case of Shwachman-Diamond Syndrome who Presented with Hypotonia. 61
30105119 2018
18
Two novel L2HGDH mutations identified in a rare Chinese family with L-2-hydroxyglutaric aciduria. 61
30217188 2018
19
Aberrant regulation of the GSK-3β/NRF2 axis unveils a novel therapy for adrenoleukodystrophy. 61
29997171 2018
20
Etiology and treatment of adrenoleukodystrophy: new insights from Drosophila. 61
29739804 2018
21
Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report. 61
29458334 2018
22
Intraventricular Glioblastoma Multiforme in A Child with L2-Hydroxyglutaric Aciduria. 61
29183865 2018
23
Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome. 61
29686941 2018
24
Neurometabolic disease: Gene therapy success for cerebral adrenoleukodystrophy. 61
29064470 2017
25
Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease. 61
28696212 2017
26
Neurometabolic disease: New drug slows Niemann-Pick disease. 61
28849784 2017
27
Bezafibrate prevents mitochondrial dysfunction, antioxidant system disturbance, glial reactivity and neuronal damage induced by sulfite administration in striatum of rats: Implications for a possible therapeutic strategy for sulfite oxidase deficiency. 61
28529047 2017
28
Dysregulated miRNAs and their pathogenic implications for the neurometabolic disease propionic acidemia. 61
28720782 2017
29
Prenatal brain disruption in isolated sulfite oxidase deficiency. 61
28629418 2017
30
The role of dentate nuclei in human oculomotor control: insights from cerebrotendinous xanthomatosis. 61
28168705 2017
31
Bioenergetic Impairment in Congenital Muscular Dystrophy Type 1A and Leigh Syndrome Muscle Cells. 61
28367954 2017
32
Microstructural changes of brain in patients with aromatic L-amino acid decarboxylase deficiency. 61
27859928 2017
33
Diagnostic value of MRS-quantified brain tissue lactate level in identifying children with mitochondrial disorders. 61
27271921 2017
34
The ethical framework for performing research with rare inherited neurometabolic disease patients. 61
28093642 2017
35
Immunolocalization of glutaryl-CoA dehydrogenase (GCDH) in adult and embryonic rat brain and peripheral tissues. 61
27984186 2017
36
Mid-face toddler excoriation syndrome (MiTES): a new paediatric diagnosis. 61
28028858 2017
37
Translating Endocannabinoid Biology into Clinical Practice: Cannabidiol for Stroke Prevention. 61
29098188 2017
38
Eyelid Dysfunction in Neurodegenerative, Neurogenetic, and Neurometabolic Disease. 61
28769865 2017
39
Gamma-Hydroxybutyrate (GHB) Content in Hair Samples Correlates Negatively with Age in Succinic Semialdehyde Dehydrogenase Deficiency. 61
28213850 2017
40
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 61
27604308 2016
41
In-vivo brain H1-MR-Spectroscopy identification and quantification of 2-hydroxyglutarate in L-2-Hydroxyglutaric aciduria. 61
27543339 2016
42
Metformin-induced mitochondrial function and ABCD2 up-regulation in X-linked adrenoleukodystrophy involves AMP-activated protein kinase. 61
26849413 2016
43
Exome Sequencing and the Management of Neurometabolic Disorders. 61
27276562 2016
44
Mutation analysis and prenatal diagnosis in a Chinese family with succinic semialdehyde dehydrogenase and a systematic review of the literature of reported ALDH5A1 mutations. 61
25431891 2016
45
Uremic parkinsonism with atypical phenotypes and radiologic features. 61
26631408 2016
46
Brown-Vialetto-Van Laere syndrome: two siblings with a new mutation and dramatic therapeutic effect of high-dose riboflavin. 61
26444347 2016
47
Novel Therapeutic Targets and Drug Candidates for Modifying Disease Progression in Adrenoleukodystrophy. 61
26684655 2016
48
A pilot study to estimate incidence of guanidinoacetate methyltransferase deficiency in newborns by direct sequencing of the GAMT gene. 61
26319512 2016
49
Oxidative stress, mitochondrial and proteostasis malfunction in adrenoleukodystrophy: A paradigm for axonal degeneration. 61
26073123 2015
50
A Rare Case of Metachromatic Leukodystrophy Confirmed by Arylsulfatase A. 61
26620033 2015

Variations for Neurometabolic Disease

Expression for Neurometabolic Disease

Search GEO for disease gene expression data for Neurometabolic Disease.

Pathways for Neurometabolic Disease

Pathways related to Neurometabolic Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.31 SLC6A8 GATM GAMT AUH ALDH5A1
2
Show member pathways
13.02 SLC6A8 GATM GAMT AUH
3
Show member pathways
10.91 GATM GAMT
4
Show member pathways
10.67 GATM GAMT
5
Show member pathways
10 GATM GAMT

GO Terms for Neurometabolic Disease

Biological processes related to Neurometabolic Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.16 SLC6A8 GAMT
2 creatine biosynthetic process GO:0006601 8.96 GATM GAMT
3 creatine metabolic process GO:0006600 8.8 SLC6A8 GATM GAMT

Sources for Neurometabolic Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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