MCID: 3MT007
MIFTS: 36

3-Methylglutaconic Aciduria

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for 3-Methylglutaconic Aciduria

MalaCards integrated aliases for 3-Methylglutaconic Aciduria:

Name: 3-Methylglutaconic Aciduria 12 58 36 29 6 44 15 39 70
3-Methyl Glutaconic Aciduria 73

Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0060336
KEGG 36 H00754
MeSH 44 C579867
ICD10 32 E71.111
ICD10 via Orphanet 33 E71.1
UMLS via Orphanet 71 C3696376
Orphanet 58 ORPHA289902
UMLS 70 C3696376

Summaries for 3-Methylglutaconic Aciduria

KEGG : 36 3-Methylglutaconic aciduria (MGCA) is a group of metabolic disorders characterized by increased urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid. Nine distinct forms of MGCA have been recognized.

MalaCards based summary : 3-Methylglutaconic Aciduria, also known as 3-methyl glutaconic aciduria, is related to 3-methylglutaconic aciduria, type viii and 3-methylglutaconic aciduria, type iv. An important gene associated with 3-Methylglutaconic Aciduria is OPA3 (Outer Mitochondrial Membrane Lipid Metabolism Regulator OPA3), and among its related pathways/superpathways are Valine, leucine and isoleucine degradation and Mitochondrial protein import. Affiliated tissues include cortex, pancreas and skin.

Disease Ontology : 12 An organic acidemia that is characterized by elevated levels of 3-methylglutaconic acid and 3-methylglutaric acid in the urine.

Wikipedia : 73 3-Methylglutaconic aciduria (MGA) is any of at least five metabolic disorders that impair the body's... more...

Related Diseases for 3-Methylglutaconic Aciduria

Diseases in the 3-Methylglutaconic Aciduria, Type Iii family:

3-Methylglutaconic Aciduria, Type I 3-Methylglutaconic Aciduria, Type Iv
3-Methylglutaconic Aciduria, Type V 3-Methylglutaconic Aciduria, Type Vii
3-Methylglutaconic Aciduria, Type Viii 3-Methylglutaconic Aciduria, Type Ix
3-Methylglutaconic Aciduria

Diseases related to 3-Methylglutaconic Aciduria via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 101)
# Related Disease Score Top Affiliating Genes
1 3-methylglutaconic aciduria, type viii 33.2 LOXL3 HTRA2
2 3-methylglutaconic aciduria, type iv 33.2 TMEM70 SERAC1 OPA3 AUH
3 3-methylglutaconic aciduria, type v 32.6 TMEM70 TIMM50 TAFAZZIN SERAC1 OPA3 DNAJC19
4 3-methylglutaconic aciduria, type i 32.5 TMEM70 TIMM50 SERAC1 OPA3 MT-TL1 EHHADH
5 barth syndrome 32.4 TMEM70 TAFAZZIN SERAC1 OPA3 DNASE1L1 DNAJC19
6 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 32.3 TMEM70 TIMM50 TAFAZZIN SERAC1 OPA3 DNAJC19
7 3-methylglutaconic aciduria, type iii 32.0 TMEM70 TIMM50 TAFAZZIN SERAC1 OPA3 HTRA2
8 mitochondrial complex v deficiency, nuclear type 5 31.7 TMEM70 ATP5F1E ATP5F1D AGK
9 organic acidemia 30.5 TMEM70 TAFAZZIN SERAC1 OPA3 DNAJC19 AUH
10 lactic acidosis 30.4 TAFAZZIN MT-TL1 AUH AGK
11 endocardial fibroelastosis 30.4 TAFAZZIN DNASE1L1 DNAJC19
12 leigh syndrome 30.3 TMEM70 SERAC1 MT-TL1 ATPAF2 ATP5F1E
13 sengers syndrome 30.0 TMEM70 TIMM50 TAFAZZIN SERAC1 DNAJC19 CLPB
14 3-methylglutaconic aciduria, type vii 12.1
15 3-methylglutaconic aciduria, type ix 12.0
16 clpb deficiency 11.7
17 behr syndrome 11.4
18 optic atrophy 3, autosomal dominant 11.3
19 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 11.3
20 megaloblastic anemia 11.3
21 tmem70 defect 11.2
22 mitochondrial dna depletion syndrome 4a 11.2
23 mitochondrial complex v deficiency, nuclear type 1 11.2
24 encephalopathy 10.6
25 hypotonia 10.6
26 neutropenia 10.5
27 inherited metabolic disorder 10.5
28 serac1 deficiency 10.5
29 spasticity 10.5
30 mitochondrial disorders 10.5
31 branchiootic syndrome 1 10.4
32 hypertrophic cardiomyopathy 10.4
33 ataxia and polyneuropathy, adult-onset 10.4
34 metabolic acidosis 10.4
35 dilated cardiomyopathy 10.4
36 dystonia 10.4
37 cataract 10.4
38 pearson marrow-pancreas syndrome 10.3
39 alacrima, achalasia, and mental retardation syndrome 10.3
40 microcephaly 10.3
41 quadriplegia 10.3
42 hypoglycemia 10.3
43 hypertonia 10.3
44 optic atrophy 6 10.2
45 atrial standstill 1 10.2
46 carbonic anhydrase va deficiency, hyperammonemia due to 10.2
47 severe congenital neutropenia 10.2
48 nephrocalcinosis 10.2
49 myopathy 10.2
50 paraplegia 10.2

Graphical network of the top 20 diseases related to 3-Methylglutaconic Aciduria:



Diseases related to 3-Methylglutaconic Aciduria

Symptoms & Phenotypes for 3-Methylglutaconic Aciduria

Drugs & Therapeutics for 3-Methylglutaconic Aciduria

Search Clinical Trials , NIH Clinical Center for 3-Methylglutaconic Aciduria

Cochrane evidence based reviews: 3-methylglutaconic aciduria

Genetic Tests for 3-Methylglutaconic Aciduria

Genetic tests related to 3-Methylglutaconic Aciduria:

# Genetic test Affiliating Genes
1 3-Methylglutaconic Aciduria 29

Anatomical Context for 3-Methylglutaconic Aciduria

MalaCards organs/tissues related to 3-Methylglutaconic Aciduria:

40
Cortex, Pancreas, Skin, Myeloid

Publications for 3-Methylglutaconic Aciduria

Articles related to 3-Methylglutaconic Aciduria:

(show top 50) (show all 200)
# Title Authors PMID Year
1
Barth syndrome: cardiolipin, cellular pathophysiology, management, and novel therapeutic targets. 61
33415565 2021
2
Acute Encephalopathic Presentation of 3-Methylglutaconic Aciduria Type I With a Novel Mutation in AUH Gene. 61
33425530 2020
3
Precocious puberty in a girl with 3-methylglutaconic aciduria type 1 (3-MGA-I) due to a novel AUH gene mutation. 61
33304818 2020
4
Human CLPB forms ATP-dependent complexes in the mitochondrial intermembrane space. 61
32866687 2020
5
MEGDEL Syndrome. 61
32684373 2020
6
[CLPB gene mutations analysis in a case of type 3-methylglutaconic aciduria]. 61
32820519 2020
7
3-Methylglutaconic aciduria type VIII in an Indian neonate. 61
32445293 2020
8
Identification of the rs797045105 in the SERAC1 Gene by Whole-exome Sequencing in a Patient Suspicious of MEGDEL Syndrome. 61
33613893 2020
9
Complete resolution of epileptic spasms with vigabatrin in a patient with 3-methylglutaconic aciduria caused by TIMM50 gene mutation. 61
32369862 2020
10
Coincidence of 3-methylglutaconic aciduria and duplication 5q - a case report and literature review. 61
32511901 2020
11
A novel mutation in the SERAC1 gene correlates with the severe manifestation of the MEGDEL phenotype, as revealed by whole-exome sequencing. 61
32346411 2020
12
Skd3 (human ClpB) is a potent mitochondrial protein disaggregase that is inactivated by 3-methylglutaconic aciduria-linked mutations. 61
32573439 2020
13
[Clinical and genetic analysis of an infant with 3-methylglutaconic aciduria type VII]. 61
32219827 2020
14
Physiopathological Bases of the Disease Caused by HACE1 Mutations: Alterations in Autophagy, Mitophagy and Oxidative Stress Response. 61
32225089 2020
15
Mitochondrial dysfunction, AMPK activation and peroxisomal metabolism: A coherent scenario for non-canonical 3-methylglutaconic acidurias. 61
31626852 2020
16
Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders. 61
33629063 2020
17
Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis. 61
31729175 2020
18
Novel homozygous OPA3 mutation in an Afghani family with 3-methylglutaconic aciduria type III and optic atrophy. 61
31928268 2019
19
Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology. 61
31058414 2019
20
Iron-sulfur cluster ISD11 deficiency (LYRM4 gene) presenting as cardiorespiratory arrest and 3-methylglutaconic aciduria. 61
31497476 2019
21
Identification of a novel splice site mutation in the SERAC1 gene responsible for the MEGDHEL syndrome. 61
31251474 2019
22
A rare clinical association: Barth syndrome and cystic fibrosis. 61
31559736 2019
23
SS-31 Peptide Reverses the Mitochondrial Fragmentation Present in Fibroblasts From Patients With DCMA, a Mitochondrial Cardiomyopathy. 61
31803760 2019
24
HTRA2 Defect: A Recognizable Inborn Error of Metabolism with 3-Methylglutaconic Aciduria as Discriminating Feature Characterized by Neonatal Movement Disorder and Epilepsy-Report of 11 Patients. 61
30114719 2018
25
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 61
29478781 2018
26
Novel mutations in SERAC1 gene in two Indian patients presenting with dystonia and intellectual disability. 61
28778788 2018
27
Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome. 61
29686941 2018
28
Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up. 61
28755360 2018
29
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases. 61
29205472 2017
30
A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients. 61
28687938 2017
31
Early infantile presentation of 3-methylglutaconic aciduria type 1 with a novel mutation in AUH gene: A case report and literature review. 61
28438368 2017
32
3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency. 61
28526534 2017
33
Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations. 61
27573165 2017
34
Identification of TAZ mutations in pediatric patients with cardiomyopathy by targeted next-generation sequencing in a Chinese cohort. 61
28183324 2017
35
Previously Unreported Biallelic Mutation in DNAJC19: Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Features of Dilated Cardiomyopathy and Ataxia (DCMA) Syndrome? 61
27928778 2017
36
Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria. 61
27696117 2017
37
Mitochondrial hepato-encephalopathy due to deficiency of QIL1/MIC13 (C19orf70), a MICOS complex subunit. 61
27485409 2016
38
When silence is noise: infantile-onset Barth syndrome caused by a synonymous substitution affecting TAZ gene transcription. 61
26853223 2016
39
Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria. 61
27208207 2016
40
Progressive Cerebellar Atrophy and a Novel Homozygous Pathogenic DNAJC19 Variant as a Cause of Dilated Cardiomyopathy Ataxia Syndrome. 61
27426421 2016
41
Identification of a Novel De Novo Mutation of the TAZ Gene in a Korean Patient with Barth Syndrome. 61
27358708 2016
42
Transient neonatal renal failure and massive polyuria in MEGDEL syndrome. 61
27331002 2016
43
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. 61
27290639 2016
44
Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia. 61
26916670 2016
45
BARTH SYNDROME IN MALE AND FEMALE SIBLINGS CAUSED BY A NOVEL MUTATION IN THE TAZ GENE. 61
30226969 2016
46
Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation? 61
26724946 2016
47
Clinical manifestations and enzymatic activities of mitochondrial respiratory chain complexes in Pearson marrow-pancreas syndrome with 3-methylglutaconic aciduria: a case report and literature review. 61
26074369 2015
48
Atypical presentation of Costeff syndrome-severe psychomotor involvement and electrical status epilepticus during slow wave sleep. 61
26190011 2015
49
Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 gene mutation. 61
27186703 2015
50
MEGDEL Syndrome in a Child From Palestine: Report of a Novel Mutation in SERAC1 Gene. 61
25051967 2015

Variations for 3-Methylglutaconic Aciduria

ClinVar genetic disease variations for 3-Methylglutaconic Aciduria:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DNAJC19 NM_145261.4(DNAJC19):c.62A>T (p.Tyr21Phe) SNV Uncertain significance 587633 rs752913622 GRCh37: 3:180705878-180705878
GRCh38: 3:180988090-180988090

Expression for 3-Methylglutaconic Aciduria

Search GEO for disease gene expression data for 3-Methylglutaconic Aciduria.

Pathways for 3-Methylglutaconic Aciduria

Pathways related to 3-Methylglutaconic Aciduria according to KEGG:

36
# Name Kegg Source Accession
1 Valine, leucine and isoleucine degradation hsa00280

GO Terms for 3-Methylglutaconic Aciduria

Cellular components related to 3-Methylglutaconic Aciduria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.73 MCCC2 AUH ATP5F1E ATP5F1D
2 mitochondrial membrane GO:0031966 9.63 TAFAZZIN HTRA2 AGK
3 peroxisome GO:0005777 9.58 MVD HMGCR EHHADH
4 mitochondrial intermembrane space GO:0005758 9.5 HTRA2 CLPB AGK
5 mitochondrial inner membrane GO:0005743 9.5 TMEM70 TIMM50 TAFAZZIN DNAJC19 ATP5F1E ATP5F1D
6 mitochondrion GO:0005739 9.47 TMEM70 TIMM50 TAFAZZIN SERAC1 OPA3 MCCC2
7 mitochondrial proton-transporting ATP synthase complex GO:0005753 9.37 ATP5F1E ATP5F1D
8 proton-transporting ATP synthase complex, catalytic core F(1) GO:0045261 9.26 ATP5F1E ATP5F1D
9 mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) GO:0000275 9.16 ATP5F1E ATP5F1D

Biological processes related to 3-Methylglutaconic Aciduria according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 ATP biosynthetic process GO:0006754 9.49 ATP5F1E ATP5F1D
2 sterol biosynthetic process GO:0016126 9.48 MVD HMGCR
3 ATP synthesis coupled proton transport GO:0015986 9.46 ATP5F1E ATP5F1D
4 mitochondrial ATP synthesis coupled proton transport GO:0042776 9.43 ATP5F1E ATP5F1D
5 protein import into mitochondrial matrix GO:0030150 9.4 TIMM50 DNAJC19
6 branched-chain amino acid catabolic process GO:0009083 9.37 MCCC2 AUH
7 isoprenoid biosynthetic process GO:0008299 9.32 MVD HMGCR
8 mitochondrial proton-transporting ATP synthase complex assembly GO:0033615 9.26 TMEM70 ATP5F1D
9 leucine catabolic process GO:0006552 9.16 MCCC2 AUH
10 coenzyme A metabolic process GO:0015936 8.96 MCCC2 HMGCR
11 cristae formation GO:0042407 8.8 TAFAZZIN ATP5F1E ATP5F1D

Molecular functions related to 3-Methylglutaconic Aciduria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lyase activity GO:0016829 9.33 MVD EHHADH AUH
2 proton-transporting ATP synthase activity, rotational mechanism GO:0046933 8.96 ATP5F1E ATP5F1D
3 enoyl-CoA hydratase activity GO:0004300 8.62 EHHADH AUH

Sources for 3-Methylglutaconic Aciduria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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