MCID: MTH074
MIFTS: 40

Methionine Adenosyltransferase I/iii Deficiency

Categories: Genetic diseases, Neuronal diseases, Metabolic 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 57
Mat Deficiency 57 76 59 75
Mat I/iii Deficiency 57 59 75
Hypermethioninemia, Persistent, Autosomal Dominant, Due to Methionine Adenosyltransferase I/iii Deficiency 57 13
Methionine Adenosyltransferase Deficiency, Autosomal Recessive 57 29
Methionine Adenosyltransferase Deficiency 59 75
Brain Demyelination Due to Methionine Adenosyltransferase Deficiency 59
Hepatic Methionine Adenosyltransferase Deficiency 73
Deficiency of Acetyl-Coa Acetyltransferase 73
Hypermethioninemia, Isolated Persistent 57
Isolated Persistent Hypermethioninemia 75
Matd 75

Characteristics:

Orphanet epidemiological data:

59
brain demyelination due to methionine adenosyltransferase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

57
Inheritance:
autosomal dominant
autosomal recessive

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


HPO:

32
methionine adenosyltransferase i/iii deficiency:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 250850
Orphanet 59 ORPHA168598
ICD10 via Orphanet 34 E72.1
UMLS via Orphanet 74 C0268621
MeSH 44 D000592

Summaries for Methionine Adenosyltransferase I/iii Deficiency

UniProtKB/Swiss-Prot : 75 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 deficiency, is related to hypermethioninemia and homocystinuria, 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 dystonia

OMIM : 57 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)

Wikipedia : 76 Hypermethioninemia is an excess of the amino acid methionine, in the blood. This condition can occur... more...

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 hypermethioninemia 30.2 CBS MAT1A
2 homocystinuria 28.2 CBS MAT1A
3 alpha-methylacetoacetic aciduria 11.0
4 methionine adenosyltransferase deficiency 10.9
5 glycine n-methyltransferase deficiency 9.3 CBS MAT1A
6 homocysteinemia 9.2 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Mouth:
fetid breath due to increased dimethylsulfide

Laboratory Abnormalities:
increased serum methionine

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


Clinical features from OMIM:

250850

Human phenotypes related to Methionine Adenosyltransferase I/iii Deficiency:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 occasional (7.5%) HP:0001249
2 dystonia 32 HP:0001332
3 hyperreflexia 32 HP:0001347
4 hypermethioninemia 32 HP:0003235
5 cns demyelination 32 HP:0007305
6 peripheral demyelination 32 HP:0011096

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 Nutraceutical 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 29

Anatomical Context for Methionine Adenosyltransferase I/iii Deficiency

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

41
Brain

Publications for Methionine Adenosyltransferase I/iii Deficiency

Articles related to Methionine Adenosyltransferase I/iii Deficiency:

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

75 (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
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 161)
# 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 GRCh38 Chromosome 10, 80273632: 80273632
41 MAT1A NM_000429.2(MAT1A): c.*149T> C single nucleotide variant Uncertain significance rs886047317 GRCh37 Chromosome 10, 82033388: 82033388
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 rs145126070 GRCh38 Chromosome 10, 80289496: 80289501
47 MAT1A NM_000429.2(MAT1A): c.-78_-73dupGAAGAA duplication Benign rs145126070 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 GRCh38 Chromosome 10, 80272484: 80272484

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
11.65 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
10.88 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 transsulfuration GO:0019346 9.26 CBS CTH
4 cysteine biosynthetic process GO:0019344 9.16 CBS CTH
5 cysteine biosynthetic process via cystathionine GO:0019343 8.96 CBS CTH
6 hydrogen sulfide biosynthetic process GO:0070814 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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