MCID: NRM022
MIFTS: 26

Neurometabolic Disease

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Neurometabolic Disease

MalaCards integrated aliases for Neurometabolic Disease:

Name: Neurometabolic Disease 59

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA68385

Summaries for Neurometabolic Disease

MalaCards based summary : Neurometabolic Disease is related to creatine deficiency syndromes 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 skin, and related phenotypes are Upregulation of RLR pathway after Sendai virus (SeV) infection and adipose tissue

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 102)
# Related Disease Score Top Affiliating Genes
1 creatine deficiency syndromes 28.5 SLC6A8 GATM GAMT
2 cerebral creatine deficiency syndrome 2 28.1 SLC6A8 GATM GAMT
3 syndromic neurometabolic disease with x-linked intellectual disability 12.3
4 syndromic neurometabolic disease with non-x-linked intellectual disability 12.3
5 deafness, dystonia, and cerebral hypomyelination 11.1
6 brain dopamine-serotonin vesicular transport disease 11.1
7 leukodystrophy 10.2
8 inherited metabolic disorder 10.2
9 hypotonia 10.2
10 dystonia 10.1
11 adrenomyeloneuropathy 10.1
12 encephalopathy 10.1
13 metachromatic leukodystrophy 10.1
14 succinic semialdehyde dehydrogenase deficiency 10.1
15 adrenoleukodystrophy 10.1
16 ataxia and polyneuropathy, adult-onset 10.1
17 niemann-pick disease 10.1
18 lysosomal storage disease 10.1
19 niemann-pick disease, type c1 10.0
20 xanthomatosis 10.0
21 propionic acidemia 10.0
22 neuronal ceroid lipofuscinosis 10.0
23 methylmalonic acidemia 10.0
24 epilepsy 10.0
25 movement disease 10.0
26 homocystinuria 10.0
27 cerebral folate deficiency 10.0
28 mucopolysaccharidoses 10.0
29 adenylosuccinase deficiency 9.8
30 amyotrophic lateral sclerosis 1 9.8
31 neurofibromatosis, type iv, of riccardi 9.8
32 schizophrenia 9.8
33 alexander disease 9.8
34 aspartylglucosaminuria 9.8
35 cerebrotendinous xanthomatosis 9.8
36 chondrodysplasia punctata syndrome 9.8
37 galactosemia 9.8
38 l-2-hydroxyglutaric aciduria 9.8
39 vici syndrome 9.8
40 3-hydroxy-3-methylglutaryl-coa lyase deficiency 9.8
41 mannosidosis, alpha b, lysosomal 9.8
42 maple syrup urine disease 9.8
43 3-methylglutaconic aciduria, type i 9.8
44 methylmalonic aciduria, cblb type 9.8
45 mucopolysaccharidosis, type iva 9.8
46 mucopolysaccharidosis, type vii 9.8
47 myoclonic epilepsy of lafora 9.8
48 leigh syndrome 9.8
49 neuraminidase deficiency 9.8
50 phenylketonuria 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
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Upregulation of RLR pathway after Sendai virus (SeV) infection GR00302-A 8.62 ALDH5A1 GATM

MGI Mouse Phenotypes related to Neurometabolic Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.13 GAMT GATM SLC6A8
2 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:

41
Brain, Skeletal Muscle, Skin, Bone, Bone Marrow

Publications for Neurometabolic Disease

Articles related to Neurometabolic Disease:

(show top 50) (show all 131)
# Title Authors PMID Year
1
Involvement of the Cholinergic Parameters and Glial Cells in Learning Delay Induced by Glutaric Acid: Protection by N-Acetylcysteine. 38
30421167 2019
2
Pathogenesis of brain damage in glutaric acidemia type I: Lessons from the genetic mice model. 38
31125684 2019
3
Daily Functioning and Quality of Life in Patients with Sjögren-Larsson Syndrome. 38
30609437 2019
4
The Role of Oxidative Stress and Bioenergetic Dysfunction in Sulfite Oxidase Deficiency: Insights from Animal Models. 38
30515714 2019
5
The quaternary structure of human tyrosine hydroxylase: effects of dystonia-associated missense variants on oligomeric state and enzyme activity. 38
30411798 2019
6
Mutated SUCLG1 causes mislocalization of SUCLG2 protein, morphological alterations of mitochondria and an early-onset severe neurometabolic disorder. 38
30470562 2019
7
Long Lasting High Lysine Diet Aggravates White Matter Injury in Glutaryl-CoA Dehydrogenase Deficient (Gcdh-/-) Mice. 38
29779173 2019
8
Antisense oligonucleotides modulate dopa decarboxylase function in aromatic l-amino acid decarboxylase deficiency. 38
30260058 2018
9
Oxidative Imbalance, Nitrative Stress, and Inflammation in C6 Glial Cells Exposed to Hexacosanoic Acid: Protective Effect of N-acetyl-L-cysteine, Trolox, and Rosuvastatin. 38
30302628 2018
10
Nonketotic hyperglycinemia: Clinical range and outcome of a rare neurometabolic disease in a single-center. 38
29929752 2018
11
NAD(P)HX repair deficiency causes central metabolic perturbations in yeast and human cells. 38
30098110 2018
12
A Case of Shwachman-Diamond Syndrome who Presented with Hypotonia. 38
30105119 2018
13
Two novel L2HGDH mutations identified in a rare Chinese family with L-2-hydroxyglutaric aciduria. 38
30217188 2018
14
Aberrant regulation of the GSK-3β/NRF2 axis unveils a novel therapy for adrenoleukodystrophy. 38
29997171 2018
15
Etiology and treatment of adrenoleukodystrophy: new insights from Drosophila. 38
29739804 2018
16
Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report. 38
29458334 2018
17
Intraventricular Glioblastoma Multiforme in A Child with L2-Hydroxyglutaric Aciduria. 38
29183865 2018
18
Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome. 38
29686941 2018
19
Neurometabolic disease: Gene therapy success for cerebral adrenoleukodystrophy. 38
29064470 2017
20
Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease. 38
28696212 2017
21
Neurometabolic disease: New drug slows Niemann-Pick disease. 38
28849784 2017
22
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. 38
28529047 2017
23
Dysregulated miRNAs and their pathogenic implications for the neurometabolic disease propionic acidemia. 38
28720782 2017
24
Prenatal brain disruption in isolated sulfite oxidase deficiency. 38
28629418 2017
25
The role of dentate nuclei in human oculomotor control: insights from cerebrotendinous xanthomatosis. 38
28168705 2017
26
Bioenergetic Impairment in Congenital Muscular Dystrophy Type 1A and Leigh Syndrome Muscle Cells. 38
28367954 2017
27
Microstructural changes of brain in patients with aromatic L-amino acid decarboxylase deficiency. 38
27859928 2017
28
Diagnostic value of MRS-quantified brain tissue lactate level in identifying children with mitochondrial disorders. 38
27271921 2017
29
The ethical framework for performing research with rare inherited neurometabolic disease patients. 38
28093642 2017
30
Immunolocalization of glutaryl-CoA dehydrogenase (GCDH) in adult and embryonic rat brain and peripheral tissues. 38
27984186 2017
31
Translating Endocannabinoid Biology into Clinical Practice: Cannabidiol for Stroke Prevention. 38
29098188 2017
32
Eyelid Dysfunction in Neurodegenerative, Neurogenetic, and Neurometabolic Disease. 38
28769865 2017
33
Mid-face toddler excoriation syndrome (MiTES): a new paediatric diagnosis. 38
28028858 2017
34
Gamma-Hydroxybutyrate (GHB) Content in Hair Samples Correlates Negatively with Age in Succinic Semialdehyde Dehydrogenase Deficiency. 38
28213850 2017
35
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 38
27604308 2016
36
In-vivo brain H1-MR-Spectroscopy identification and quantification of 2-hydroxyglutarate in L-2-Hydroxyglutaric aciduria. 38
27543339 2016
37
Metformin-induced mitochondrial function and ABCD2 up-regulation in X-linked adrenoleukodystrophy involves AMP-activated protein kinase. 38
26849413 2016
38
Exome Sequencing and the Management of Neurometabolic Disorders. 38
27276562 2016
39
Mutation analysis and prenatal diagnosis in a Chinese family with succinic semialdehyde dehydrogenase and a systematic review of the literature of reported ALDH5A1 mutations. 38
25431891 2016
40
Uremic parkinsonism with atypical phenotypes and radiologic features. 38
26631408 2016
41
Brown-Vialetto-Van Laere syndrome: two siblings with a new mutation and dramatic therapeutic effect of high-dose riboflavin. 38
26444347 2016
42
A pilot study to estimate incidence of guanidinoacetate methyltransferase deficiency in newborns by direct sequencing of the GAMT gene. 38
26319512 2016
43
Novel Therapeutic Targets and Drug Candidates for Modifying Disease Progression in Adrenoleukodystrophy. 38
26684655 2016
44
Oxidative stress, mitochondrial and proteostasis malfunction in adrenoleukodystrophy: A paradigm for axonal degeneration. 38
26073123 2015
45
A Rare Case of Metachromatic Leukodystrophy Confirmed by Arylsulfatase A. 38
26620033 2015
46
Glutaric aciduria type 1: neuroimaging features with clinical correlation. 38
26111870 2015
47
Unexpected clinical features in a female patient with proopiomelanocortin (POMC) deficiency. 38
25503863 2015
48
Autophagy induction halts axonal degeneration in a mouse model of X-adrenoleukodystrophy. 38
25549970 2015
49
Enzymatic characterization of ELOVL1, a key enzyme in very long-chain fatty acid synthesis. 38
25499606 2015
50
Dilative Arteriopathy and Leucencephalopathy as Manifestations of a Neurometabolic Disease. 38
26191091 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
13.3 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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