MATD
MCID: MTH074
MIFTS: 39

Methionine Adenosyltransferase I/iii Deficiency (MATD)

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

Aliases & Classifications for Methionine Adenosyltransferase I/iii Deficiency

MalaCards integrated aliases for Methionine Adenosyltransferase I/iii Deficiency:

Name: Methionine Adenosyltransferase I/iii Deficiency 58
Mat I/iii Deficiency 58 60 76
Mat Deficiency 58 60 76
Hypermethioninemia, Persistent, Autosomal Dominant, Due to Methionine Adenosyltransferase I/iii Deficiency 58 13
Methionine Adenosyltransferase Deficiency, Autosomal Recessive 58 30
Methionine Adenosyltransferase Deficiency 60 76
Brain Demyelination Due to Methionine Adenosyltransferase Deficiency 60
Hepatic Methionine Adenosyltransferase Deficiency 74
Deficiency of Acetyl-Coa Acetyltransferase 74
Hypermethioninemia, Isolated Persistent 58
Isolated Persistent Hypermethioninemia 76
Matd 76

Characteristics:

Orphanet epidemiological data:

60
brain demyelination due to methionine adenosyltransferase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

58
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
most patients are clinically asymptomatic
patient with truncating mutations are more likely to develop neurologic abnormalities


HPO:

33
methionine adenosyltransferase i/iii deficiency:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 250850
MeSH 45 D000592
ICD10 via Orphanet 35 E72.1
UMLS via Orphanet 75 C0268621
Orphanet 60 ORPHA168598

Summaries for Methionine Adenosyltransferase I/iii Deficiency

UniProtKB/Swiss-Prot : 76 Methionine adenosyltransferase deficiency: An inborn error of metabolism resulting in isolated hypermethioninemia. Most patients have no clinical abnormalities, although some neurologic symptoms may be present in rare cases with severe loss of methionine adenosyltransferase activity.

MalaCards based summary : Methionine Adenosyltransferase I/iii Deficiency, also known as mat i/iii deficiency, is related to glycine n-methyltransferase deficiency and hypermethioninemia, and has symptoms including vomiting An important gene associated with Methionine Adenosyltransferase I/iii Deficiency is MAT1A (Methionine Adenosyltransferase 1A), and among its related pathways/superpathways are Viral mRNA Translation and Glucose / Energy Metabolism. The drugs Methionine and Lecithin have been mentioned in the context of this disorder. Affiliated tissues include brain, and related phenotypes are intellectual disability and hyperreflexia

OMIM : 58 Methionine adenosyltransferase deficiency is an inborn error of metabolism resulting in isolated hypermethioninemia. Most patients have no clinical abnormalities, although some with the autosomal recessive form have have neurologic abnormalities (Mudd et al., 2003; Kim et al., 2016). (250850)

Related Diseases for Methionine Adenosyltransferase I/iii Deficiency

Diseases related to Methionine Adenosyltransferase I/iii Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 glycine n-methyltransferase deficiency 31.5 CBS MAT1A
2 hypermethioninemia 31.1 CBS MAT1A
3 homocystinuria 29.3 CBS MAT1A
4 extraoral halitosis due to methanethiol oxidase deficiency 11.4
5 methionine adenosyltransferase deficiency 11.1
6 alpha-methylacetoacetic aciduria 10.4
7 cystathioninuria 9.7 CBS CTH
8 homocysteinemia 9.6 CBS CTH

Graphical network of the top 20 diseases related to Methionine Adenosyltransferase I/iii Deficiency:



Diseases related to Methionine Adenosyltransferase I/iii Deficiency

Symptoms & Phenotypes for Methionine Adenosyltransferase I/iii Deficiency

Human phenotypes related to Methionine Adenosyltransferase I/iii Deficiency:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 occasional (7.5%) HP:0001249
2 hyperreflexia 33 HP:0001347
3 dystonia 33 HP:0001332
4 peripheral demyelination 33 HP:0011096
5 cns demyelination 33 HP:0007305
6 hypermethioninemia 33 HP:0003235

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
hyperreflexia
dystonia
mental retardation (in some patients)
demyelination
neurologic involvement is rare

Laboratory Abnormalities:
increased serum methionine

Head And Neck Mouth:
fetid breath due to increased dimethylsulfide
extraoral halitosis

Clinical features from OMIM:

250850

UMLS symptoms related to Methionine Adenosyltransferase I/iii Deficiency:


vomiting

Drugs & Therapeutics for Methionine Adenosyltransferase I/iii Deficiency

Drugs for Methionine Adenosyltransferase I/iii Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methionine Approved, Nutraceutical Not Applicable 63-68-3 6137
2 Lecithin Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of Phosphatidylcholine in a Patient With Methionine Adenosyltransferase Deficiency Completed NCT00006061 Not Applicable phosphatidylcholine

Search NIH Clinical Center for Methionine Adenosyltransferase I/iii Deficiency

Genetic Tests for Methionine Adenosyltransferase I/iii Deficiency

Genetic tests related to Methionine Adenosyltransferase I/iii Deficiency:

# Genetic test Affiliating Genes
1 Methionine Adenosyltransferase Deficiency, Autosomal Recessive 30

Anatomical Context for Methionine Adenosyltransferase I/iii Deficiency

MalaCards organs/tissues related to Methionine Adenosyltransferase I/iii Deficiency:

42
Brain

Publications for Methionine Adenosyltransferase I/iii Deficiency

Articles related to Methionine Adenosyltransferase I/iii Deficiency:

(show all 19)
# Title Authors Year
1
Neonatal methionine adenosyltransferase I/III deficiency with abnormal signal intensity in the central tegmental tract. ( 30389272 )
2019
2
Methionine adenosyltransferase I/III deficiency: beyond the central nervous system manifestations. ( 29440907 )
2018
3
Attenuated brain lesion on magnetic resonance imaging in an adult patient with methionine adenosyltransferase I/III deficiency. ( 28247119 )
2017
4
Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian Peninsula. ( 25638462 )
2015
5
Corrigendum to "Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening" [Mol. Genet. Metab. 110 (2013) 218-221]. ( 25877476 )
2015
6
Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes. ( 26289392 )
2015
7
Neurologically normal development of a patient with severe methionine adenosyltransferase I/III deficiency after continuing dietary methionine restriction. ( 23973726 )
2013
8
Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening. ( 23993429 )
2013
9
Spectrum of mutations associated with methionine adenosyltransferase I/III deficiency among individuals identified during newborn screening in Japan. ( 24231718 )
2013
10
Methionine adenosyltransferase I/III deficiency: neurological manifestations and relevance of S-adenosylmethionine. ( 22951388 )
2012
11
Methionine Adenosyltransferase I/III Deficiency in Portugal: High Frequency of a Dominantly Inherited Form in a Small Area of Douro High Lands. ( 23430947 )
2012
12
Hypermethioninaemia due to methionine adenosyltransferase I/III (MAT I/III) deficiency: diagnosis in an expanded neonatal screening programme. ( 18500573 )
2008
13
Methionine adenosyltransferase (MAT) I/III deficiency with concurrent hyperhomocysteinaemia: two novel cases. ( 16435220 )
2005
14
Reversible white matter lesion in methionine adenosyltransferase I/III deficiency. ( 15569761 )
2004
15
Maternal methionine adenosyltransferase I/III deficiency: reproductive outcomes in a woman with four pregnancies. ( 14518826 )
2003
16
Elevated plasma total homocysteine in severe methionine adenosyltransferase I/III deficiency. ( 12145770 )
2002
17
Methionine adenosyltransferase I/III deficiency: two Korean compound heterozygous siblings with a novel mutation. ( 12705496 )
2002
18
Methionine adenosyltransferase I/III deficiency: novel mutations and clinical variations. ( 10677294 )
2000
19
Demyelination of the brain is associated with methionine adenosyltransferase I/III deficiency. ( 8770875 )
1996

Variations for Methionine Adenosyltransferase I/iii Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Methionine Adenosyltransferase I/iii Deficiency:

76 (show all 12)
# Symbol AA change Variation ID SNP ID
1 MAT1A p.Ala55Asp VAR_006935 rs118204002
2 MAT1A p.Arg199Cys VAR_006936 rs773267230
3 MAT1A p.Arg264His VAR_006937 rs72558181
4 MAT1A p.Leu305Pro VAR_006938 rs118204004
5 MAT1A p.Ile322Met VAR_006939 rs118204001
6 MAT1A p.Arg356Gln VAR_006940 rs138742870
7 MAT1A p.Pro357Leu VAR_006941 rs118204003
8 MAT1A p.Gly378Ser VAR_006942 rs117002806
9 MAT1A p.Ser38Asn VAR_031242
10 MAT1A p.Arg264Cys VAR_031243 rs118204005
11 MAT1A p.Gly336Arg VAR_031244 rs118204006
12 MAT1A p.Glu344Ala VAR_031245

ClinVar genetic disease variations for Methionine Adenosyltransferase I/iii Deficiency:

6 (show top 50) (show all 181)
# Gene Variation Type Significance SNP ID Assembly Location
1 MAT1A NM_000429.2(MAT1A): c.966T> G (p.Ile322Met) single nucleotide variant Pathogenic rs118204001 GRCh37 Chromosome 10, 82034395: 82034395
2 MAT1A NM_000429.2(MAT1A): c.966T> G (p.Ile322Met) single nucleotide variant Pathogenic rs118204001 GRCh38 Chromosome 10, 80274639: 80274639
3 MAT1A NM_000429.2(MAT1A): c.164C> A (p.Ala55Asp) single nucleotide variant Pathogenic rs118204002 GRCh37 Chromosome 10, 82045273: 82045273
4 MAT1A NM_000429.2(MAT1A): c.164C> A (p.Ala55Asp) single nucleotide variant Pathogenic rs118204002 GRCh38 Chromosome 10, 80285517: 80285517
5 MAT1A NM_000429.2(MAT1A): c.1070C> T (p.Pro357Leu) single nucleotide variant Pathogenic rs118204003 GRCh37 Chromosome 10, 82034291: 82034291
6 MAT1A NM_000429.2(MAT1A): c.1070C> T (p.Pro357Leu) single nucleotide variant Pathogenic rs118204003 GRCh38 Chromosome 10, 80274535: 80274535
7 MAT1A NM_000429.2(MAT1A): c.914T> C (p.Leu305Pro) single nucleotide variant Pathogenic rs118204004 GRCh37 Chromosome 10, 82034810: 82034810
8 MAT1A NM_000429.2(MAT1A): c.914T> C (p.Leu305Pro) single nucleotide variant Pathogenic rs118204004 GRCh38 Chromosome 10, 80275054: 80275054
9 MAT1A MAT1A, 1-BP INS, 827G insertion Pathogenic
10 MAT1A MAT1A, 2-BP DEL, 1043TG deletion Pathogenic
11 MAT1A NM_000429.2(MAT1A): c.791G> A (p.Arg264His) single nucleotide variant Pathogenic rs72558181 GRCh37 Chromosome 10, 82034933: 82034933
12 MAT1A NM_000429.2(MAT1A): c.791G> A (p.Arg264His) single nucleotide variant Pathogenic rs72558181 GRCh38 Chromosome 10, 80275177: 80275177
13 MAT1A MAT1A, 2-BP INS, 539TG insertion Pathogenic
14 MAT1A NM_000429.2(MAT1A): c.790C> T (p.Arg264Cys) single nucleotide variant Pathogenic rs118204005 GRCh37 Chromosome 10, 82034934: 82034934
15 MAT1A NM_000429.2(MAT1A): c.790C> T (p.Arg264Cys) single nucleotide variant Pathogenic rs118204005 GRCh38 Chromosome 10, 80275178: 80275178
16 MAT1A NM_000429.2(MAT1A): c.1006G> A (p.Gly336Arg) single nucleotide variant Pathogenic rs118204006 GRCh37 Chromosome 10, 82034355: 82034355
17 MAT1A NM_000429.2(MAT1A): c.1006G> A (p.Gly336Arg) single nucleotide variant Pathogenic rs118204006 GRCh38 Chromosome 10, 80274599: 80274599
18 MAT1A NM_000429.2(MAT1A): c.1131C> T (p.Tyr377=) single nucleotide variant Benign rs2993763 GRCh38 Chromosome 10, 80273838: 80273838
19 MAT1A NM_000429.2(MAT1A): c.1131C> T (p.Tyr377=) single nucleotide variant Benign rs2993763 GRCh37 Chromosome 10, 82033594: 82033594
20 MAT1A NM_000429.2(MAT1A): c.1085+14C> T single nucleotide variant Benign rs2994388 GRCh37 Chromosome 10, 82034262: 82034262
21 MAT1A NM_000429.2(MAT1A): c.1085+14C> T single nucleotide variant Benign rs2994388 GRCh38 Chromosome 10, 80274506: 80274506
22 MAT1A NM_000429.2(MAT1A): c.882T> C (p.Ala294=) single nucleotide variant Benign rs10887711 GRCh38 Chromosome 10, 80275086: 80275086
23 MAT1A NM_000429.2(MAT1A): c.882T> C (p.Ala294=) single nucleotide variant Benign rs10887711 GRCh37 Chromosome 10, 82034842: 82034842
24 MAT1A NM_000429.2(MAT1A): c.870A> G (p.Val290=) single nucleotide variant Benign rs10788546 GRCh38 Chromosome 10, 80275098: 80275098
25 MAT1A NM_000429.2(MAT1A): c.870A> G (p.Val290=) single nucleotide variant Benign rs10788546 GRCh37 Chromosome 10, 82034854: 82034854
26 MAT1A NM_000429.2(MAT1A): c.426T> C (p.Ala142=) single nucleotide variant Benign rs1143694 GRCh38 Chromosome 10, 80280296: 80280296
27 MAT1A NM_000429.2(MAT1A): c.426T> C (p.Ala142=) single nucleotide variant Benign rs1143694 GRCh37 Chromosome 10, 82040052: 82040052
28 MAT1A NM_000429.2(MAT1A): c.92-9C> G single nucleotide variant Benign rs10887721 GRCh38 Chromosome 10, 80285598: 80285598
29 MAT1A NM_000429.2(MAT1A): c.92-9C> G single nucleotide variant Benign rs10887721 GRCh37 Chromosome 10, 82045354: 82045354
30 MAT1A NM_000429.2(MAT1A): c.776C> T (p.Ala259Val) single nucleotide variant Pathogenic rs138556525 GRCh37 Chromosome 10, 82034948: 82034948
31 MAT1A NM_000429.2(MAT1A): c.776C> T (p.Ala259Val) single nucleotide variant Pathogenic rs138556525 GRCh38 Chromosome 10, 80275192: 80275192
32 MAT1A NM_000429.2(MAT1A): c.*1382G> A single nucleotide variant Uncertain significance rs886047307 GRCh37 Chromosome 10, 82032155: 82032155
33 MAT1A NM_000429.2(MAT1A): c.*1382G> A single nucleotide variant Uncertain significance rs886047307 GRCh38 Chromosome 10, 80272399: 80272399
34 MAT1A NM_000429.2(MAT1A): c.*995delC deletion Benign rs5786439 GRCh37 Chromosome 10, 82032542: 82032542
35 MAT1A NM_000429.2(MAT1A): c.*995delC deletion Benign rs5786439 GRCh38 Chromosome 10, 80272786: 80272786
36 MAT1A NM_000429.2(MAT1A): c.*747C> T single nucleotide variant Uncertain significance rs886047312 GRCh37 Chromosome 10, 82032790: 82032790
37 MAT1A NM_000429.2(MAT1A): c.*747C> T single nucleotide variant Uncertain significance rs886047312 GRCh38 Chromosome 10, 80273034: 80273034
38 MAT1A NM_000429.2(MAT1A): c.*730C> T single nucleotide variant Uncertain significance rs886047313 GRCh37 Chromosome 10, 82032807: 82032807
39 MAT1A NM_000429.2(MAT1A): c.*730C> T single nucleotide variant Uncertain significance rs886047313 GRCh38 Chromosome 10, 80273051: 80273051
40 MAT1A NM_000429.2(MAT1A): c.*149T> C single nucleotide variant Uncertain significance rs886047317 GRCh37 Chromosome 10, 82033388: 82033388
41 MAT1A NM_000429.2(MAT1A): c.*149T> C single nucleotide variant Uncertain significance rs886047317 GRCh38 Chromosome 10, 80273632: 80273632
42 MAT1A NM_000429.2(MAT1A): c.-71_-66dupAAAAAA duplication Uncertain significance rs367639318 GRCh38 Chromosome 10, 80289489: 80289494
43 MAT1A NM_000429.2(MAT1A): c.-71_-66dupAAAAAA duplication Uncertain significance rs367639318 GRCh37 Chromosome 10, 82049245: 82049250
44 MAT1A NM_000429.2(MAT1A): c.-72A> G single nucleotide variant Uncertain significance rs200488580 GRCh38 Chromosome 10, 80289495: 80289495
45 MAT1A NM_000429.2(MAT1A): c.-72A> G single nucleotide variant Uncertain significance rs200488580 GRCh37 Chromosome 10, 82049251: 82049251
46 MAT1A NM_000429.2(MAT1A): c.-78_-73dupGAAGAA duplication Benign rs10694757 GRCh38 Chromosome 10, 80289496: 80289501
47 MAT1A NM_000429.2(MAT1A): c.-78_-73dupGAAGAA duplication Benign rs10694757 GRCh37 Chromosome 10, 82049252: 82049257
48 MAT1A NM_000429.2(MAT1A): c.*1924C> T single nucleotide variant Uncertain significance rs772763454 GRCh37 Chromosome 10, 82031613: 82031613
49 MAT1A NM_000429.2(MAT1A): c.*1924C> T single nucleotide variant Uncertain significance rs772763454 GRCh38 Chromosome 10, 80271857: 80271857
50 MAT1A NM_000429.2(MAT1A): c.*1297T> C single nucleotide variant Benign rs1985908 GRCh37 Chromosome 10, 82032240: 82032240

Expression for Methionine Adenosyltransferase I/iii Deficiency

Search GEO for disease gene expression data for Methionine Adenosyltransferase I/iii Deficiency.

Pathways for Methionine Adenosyltransferase I/iii Deficiency

Pathways related to Methionine Adenosyltransferase I/iii Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.04 CBS CTH MAT1A
2 11.92 CBS CTH
3
Show member pathways
11.77 CBS CTH MAT1A
4
Show member pathways
11.66 CBS CTH MAT1A
5 11.36 CBS CTH
6
Show member pathways
11.28 CBS CTH MAT1A
7
Show member pathways
11.08 CBS CTH
8
Show member pathways
10.9 CBS CTH MAT1A
9
Show member pathways
10.8 CBS MAT1A

GO Terms for Methionine Adenosyltransferase I/iii Deficiency

Biological processes related to Methionine Adenosyltransferase I/iii Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein homotetramerization GO:0051289 9.37 CTH MAT1A
2 cellular amino acid biosynthetic process GO:0008652 9.32 CBS CTH
3 cysteine biosynthetic process GO:0019344 9.26 CBS CTH
4 transsulfuration GO:0019346 9.16 CBS CTH
5 hydrogen sulfide biosynthetic process GO:0070814 8.96 CBS CTH
6 cysteine biosynthetic process via cystathionine GO:0019343 8.62 CBS CTH

Molecular functions related to Methionine Adenosyltransferase I/iii Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lyase activity GO:0016829 9.16 CBS CTH
2 identical protein binding GO:0042802 9.13 CBS CTH MAT1A
3 pyridoxal phosphate binding GO:0030170 8.62 CBS CTH

Sources for Methionine Adenosyltransferase I/iii Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
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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