MET
MCID: HYP003
MIFTS: 39

Hypermethioninemia (MET)

Categories: Blood diseases, Metabolic diseases

Aliases & Classifications for Hypermethioninemia

MalaCards integrated aliases for Hypermethioninemia:

Name: Hypermethioninemia 12 25 37 29 55 6 15 73
Hepatic Methionine Adenosyltransferase Deficiency 25 29 6 40 73
Glycine N-Methyltransferase Deficiency 25 73
Deficiency of Methionine Adenosyltransferase 25
S-Adenosylhomocysteine Hydrolase Deficiency 25
Deficiency of Acetyl-Coa Acetyltransferase 73
Methionine Adenosyltransferase Deficiency 25
S-Adenosylhomocysteine Hydrolase 13
Gnmt Deficiency 25
Mat Deficiency 25
Methioninemia 25
Met 25

Classifications:



External Ids:

Disease Ontology 12 DOID:0050544
KEGG 37 H00184

Summaries for Hypermethioninemia

Genetics Home Reference : 25 Hypermethioninemia is an excess of a particular protein building block (amino acid), called methionine, in the blood. This condition can occur when methionine is not broken down (metabolized) properly in the body.

MalaCards based summary : Hypermethioninemia, also known as hepatic methionine adenosyltransferase deficiency, is related to methionine adenosyltransferase i/iii deficiency and glycine n-methyltransferase deficiency, and has symptoms including vomiting An important gene associated with Hypermethioninemia is MAT1A (Methionine Adenosyltransferase 1A), and among its related pathways/superpathways are Cysteine and methionine metabolism and Selenocompound metabolism. Affiliated tissues include brain, liver and cortex.

Disease Ontology : 12 An amino acid metabolic disorder that involves an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body.

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

Related Diseases for Hypermethioninemia

Graphical network of the top 20 diseases related to Hypermethioninemia:



Diseases related to Hypermethioninemia

Symptoms & Phenotypes for Hypermethioninemia

UMLS symptoms related to Hypermethioninemia:


vomiting

Drugs & Therapeutics for Hypermethioninemia

Search Clinical Trials , NIH Clinical Center for Hypermethioninemia

Genetic Tests for Hypermethioninemia

Genetic tests related to Hypermethioninemia:

# Genetic test Affiliating Genes
1 Hepatic Methionine Adenosyltransferase Deficiency 29 MAT1A
2 Hypermethioninemia 29

Anatomical Context for Hypermethioninemia

MalaCards organs/tissues related to Hypermethioninemia:

41
Brain, Liver, Cortex

Publications for Hypermethioninemia

Articles related to Hypermethioninemia:

(show all 40)
# Title Authors Year
1
Maternal Hypermethioninemia Affects Neurons Number, Neurotrophins Levels, Energy Metabolism, and Na(+),K(+)-ATPase Expression/Content in Brain of Rat Offspring. ( 28084592 )
2017
2
Confirmation that MAT1A p.Ala259Val mutation causes autosomal dominant hypermethioninemia. ( 28748147 )
2017
3
[Analysis of MAT1A gene mutations in a child affected with simple hypermethioninemia]. ( 28186605 )
2017
4
Mechanistic basis of hypermethioninemia. ( 27465642 )
2016
5
Development of an animal model for gestational hypermethioninemia in rat and its effect on brain Na(+),K (+)-ATPase/Mg (2+)-ATPase activity and oxidative status of the offspring. ( 24248636 )
2013
6
Acute and chronic hypermethioninemia alter Na+ K+-ATPase activity in rat hippocampus: prevention by antioxidants. ( 21354298 )
2011
7
Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function. ( 21963049 )
2011
8
Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemia. ( 20675163 )
2010
9
Hypermethioninemia provokes oxidative damage and histological changes in liver of rats. ( 19426780 )
2009
10
Streptococcal pyrogenic exotoxin B cleaves human S-adenosylhomocysteine hydrolase and induces hypermethioninemia. ( 18522500 )
2008
11
Hypermethioninemia increases cerebral acetylcholinesterase activity and impairs memory in rats. ( 17701348 )
2007
12
Reduction of gangliosides, phospholipids and cholesterol content in cerebral cortex of rats caused by chronic hypermethioninemia. ( 17890041 )
2007
13
Effect of hypermethioninemia on some parameters of oxidative stress and on Na(+),K (+)-ATPase activity in hippocampus of rats. ( 17473966 )
2007
14
Chemically induced model of hypermethioninemia in rats. ( 16978704 )
2007
15
Soy protein diet prevents hypermethioninemia caused by portacaval shunt in rats. ( 16953062 )
2006
16
Spectrum of hypermethioninemia in neonatal screening. ( 15935930 )
2005
17
Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trap. ( 12765841 )
2003
18
Biochemical basis for the dominant inheritance of hypermethioninemia associated with the R264H mutation of the MAT1A gene. A monomeric methionine adenosyltransferase with tripolyphosphatase activity. ( 11278456 )
2001
19
Molecular genetics of hepatic methionine adenosyltransferase deficiency. ( 10674710 )
2000
20
Isolated hypermethioninemia: measurements of S-adenosylmethionine and choline. ( 11145114 )
2000
21
Genetic analysis of isolated persistent hypermethioninemia with dominant inheritance. ( 9363660 )
1997
22
Dominant inheritance of isolated hypermethioninemia is associated with a mutation in the human methionine adenosyltransferase 1A gene. ( 9042912 )
1997
23
Isolated persistent hypermethioninemia. ( 7573050 )
1995
24
Familial hypermethioninemia partially responsive to dietary restriction. ( 2380820 )
1990
25
Cystathionine-synthase-deficient patients do not use the transamination pathway of methionine to reduce hypermethioninemia and homocystinemia. ( 2725296 )
1989
26
Transsulfuration in an adult with hepatic methionine adenosyltransferase deficiency. ( 3339126 )
1988
27
The effects of diet and duration of diabetes on hypermethioninemia in streptozotocin-diabetic rats. ( 3370550 )
1988
28
Hepatic methionine adenosyltransferase deficiency in a 31-year-old man. ( 3812486 )
1987
29
Cholestasis and hypermethioninemia during dietary management of hereditary tyrosinemia type 1. ( 2872285 )
1986
30
A new type of hypermethioninemia in neonates. ( 7157356 )
1982
31
Hypermethioninemia associated with methionine adenosyltransferase deficiency: clinical, morphologic, and biochemical observations on four patients. ( 7229751 )
1981
32
[Hypermethioninemia. Apropos of a case in a consanguineous couple]. ( 7470271 )
1980
33
Hypermethioninemia in an infant. ( 564605 )
1978
34
Abnormal methionine adenosyltransferase in hypermethioninemia. ( 1191305 )
1975
35
Methionine adenosyltransferase deficiency: new enzymatic defect associated with hypermethioninemia. ( 4421454 )
1974
36
Hypermethioninemia with other hyperaminoacidemias. Studies in infants on high-protein diets. ( 5812761 )
1969
37
Transient infantile hypermethioninemia. ( 5677492 )
1968
38
Tyrosinemia associated with hypermethioninemia and islet cell hyperplasia. ( 4862180 )
1967
39
A patient with tyrosinemia and hypermethioninemia. ( 6050907 )
1967
40
HYPERMETHIONINEMIA: A METABOLIC DISORDER ASSOCIATED WITH CIRRHOSIS, ISLET CELL HYPERPLASIA, AND RENAL TUBULAR DEGENERATION. ( 14320034 )
1965

Variations for Hypermethioninemia

ClinVar genetic disease variations for Hypermethioninemia:

6 (show top 50) (show all 84)
# Gene Variation Type Significance SNP ID Assembly Location
1 ADK NM_001123.3(ADK): c.-215T> C single nucleotide variant Uncertain significance rs192064997 GRCh37 Chromosome 10, 75936416: 75936416
2 ADK NM_001123.3(ADK): c.-215T> C single nucleotide variant Uncertain significance rs192064997 GRCh38 Chromosome 10, 74176658: 74176658
3 ADK NM_001123.3(ADK): c.-192G> C single nucleotide variant Uncertain significance rs886047233 GRCh37 Chromosome 10, 75936439: 75936439
4 ADK NM_001123.3(ADK): c.-192G> C single nucleotide variant Uncertain significance rs886047233 GRCh38 Chromosome 10, 74176681: 74176681
5 ADK NM_001123.3(ADK): c.-20C> T single nucleotide variant Benign rs10824095 GRCh38 Chromosome 10, 74176853: 74176853
6 ADK NM_001123.3(ADK): c.-20C> T single nucleotide variant Benign rs10824095 GRCh37 Chromosome 10, 75936611: 75936611
7 ADK NM_001123.3(ADK): c.390C> T (p.Asp130=) single nucleotide variant Uncertain significance rs886047236 GRCh38 Chromosome 10, 74394308: 74394308
8 ADK NM_001123.3(ADK): c.390C> T (p.Asp130=) single nucleotide variant Uncertain significance rs886047236 GRCh37 Chromosome 10, 76154066: 76154066
9 ADK NM_001123.3(ADK): c.654T> C (p.Asp218=) single nucleotide variant Likely benign rs16931480 GRCh38 Chromosome 10, 74525405: 74525405
10 ADK NM_001123.3(ADK): c.654T> C (p.Asp218=) single nucleotide variant Likely benign rs16931480 GRCh37 Chromosome 10, 76285163: 76285163
11 ADK NM_001123.3(ADK): c.675+11T> G single nucleotide variant Uncertain significance rs45529443 GRCh38 Chromosome 10, 74525437: 74525437
12 ADK NM_001123.3(ADK): c.675+11T> G single nucleotide variant Uncertain significance rs45529443 GRCh37 Chromosome 10, 76285195: 76285195
13 ADK NM_001123.3(ADK): c.712-9T> C single nucleotide variant Uncertain significance rs780824505 GRCh38 Chromosome 10, 74600370: 74600370
14 ADK NM_001123.3(ADK): c.712-9T> C single nucleotide variant Uncertain significance rs780824505 GRCh37 Chromosome 10, 76360128: 76360128
15 ADK NM_001123.3(ADK): c.*740C> T single nucleotide variant Uncertain significance rs150465356 GRCh38 Chromosome 10, 74709185: 74709185
16 ADK NM_001123.3(ADK): c.*740C> T single nucleotide variant Uncertain significance rs150465356 GRCh37 Chromosome 10, 76468943: 76468943
17 ADK NM_001123.3(ADK): c.-260A> T single nucleotide variant Uncertain significance rs886047232 GRCh37 Chromosome 10, 75936371: 75936371
18 ADK NM_001123.3(ADK): c.-260A> T single nucleotide variant Uncertain significance rs886047232 GRCh38 Chromosome 10, 74176613: 74176613
19 ADK NM_001123.3(ADK): c.208A> G (p.Ile70Val) single nucleotide variant Uncertain significance rs201734294 GRCh38 Chromosome 10, 74314731: 74314731
20 ADK NM_001123.3(ADK): c.208A> G (p.Ile70Val) single nucleotide variant Uncertain significance rs201734294 GRCh37 Chromosome 10, 76074489: 76074489
21 ADK NM_001123.3(ADK): c.*648C> T single nucleotide variant Benign rs1189553 GRCh38 Chromosome 10, 74709093: 74709093
22 ADK NM_001123.3(ADK): c.*648C> T single nucleotide variant Benign rs1189553 GRCh37 Chromosome 10, 76468851: 76468851
23 ADK NM_001123.3(ADK): c.-75T> C single nucleotide variant Uncertain significance rs886047235 GRCh38 Chromosome 10, 74176798: 74176798
24 ADK NM_001123.3(ADK): c.-75T> C single nucleotide variant Uncertain significance rs886047235 GRCh37 Chromosome 10, 75936556: 75936556
25 ADK NM_001123.3(ADK): c.-118G> T single nucleotide variant Uncertain significance rs886047234 GRCh38 Chromosome 10, 74176755: 74176755
26 ADK NM_001123.3(ADK): c.-118G> T single nucleotide variant Uncertain significance rs886047234 GRCh37 Chromosome 10, 75936513: 75936513
27 ADK NM_001123.3(ADK): c.169A> G (p.Lys57Glu) single nucleotide variant Uncertain significance rs201786575 GRCh38 Chromosome 10, 74314692: 74314692
28 ADK NM_001123.3(ADK): c.169A> G (p.Lys57Glu) single nucleotide variant Uncertain significance rs201786575 GRCh37 Chromosome 10, 76074450: 76074450
29 ADK NM_001123.3(ADK): c.676-11T> C single nucleotide variant Likely benign rs12778270 GRCh38 Chromosome 10, 74589271: 74589271
30 ADK NM_001123.3(ADK): c.676-11T> C single nucleotide variant Likely benign rs12778270 GRCh37 Chromosome 10, 76349029: 76349029
31 ADK NM_001123.3(ADK): c.1037G> A (p.Ter346=) single nucleotide variant Uncertain significance rs148819558 GRCh38 Chromosome 10, 74708444: 74708444
32 ADK NM_001123.3(ADK): c.1037G> A (p.Ter346=) single nucleotide variant Uncertain significance rs148819558 GRCh37 Chromosome 10, 76468202: 76468202
33 ADK NM_001123.3(ADK): c.*157G> A single nucleotide variant Uncertain significance rs886047237 GRCh38 Chromosome 10, 74708602: 74708602
34 ADK NM_001123.3(ADK): c.*157G> A single nucleotide variant Uncertain significance rs886047237 GRCh37 Chromosome 10, 76468360: 76468360
35 ADK NM_001123.3(ADK): c.*337T> G single nucleotide variant Uncertain significance rs886047238 GRCh38 Chromosome 10, 74708782: 74708782
36 ADK NM_001123.3(ADK): c.*337T> G single nucleotide variant Uncertain significance rs886047238 GRCh37 Chromosome 10, 76468540: 76468540
37 ADK NM_001123.3(ADK): c.*375A> G single nucleotide variant Uncertain significance rs185021662 GRCh38 Chromosome 10, 74708820: 74708820
38 ADK NM_001123.3(ADK): c.*375A> G single nucleotide variant Uncertain significance rs185021662 GRCh37 Chromosome 10, 76468578: 76468578
39 AHCY NM_000687.3(AHCY): c.*621T> C single nucleotide variant Uncertain significance rs886056634 GRCh37 Chromosome 20, 32868219: 32868219
40 AHCY NM_000687.3(AHCY): c.*621T> C single nucleotide variant Uncertain significance rs886056634 GRCh38 Chromosome 20, 34280413: 34280413
41 AHCY NM_000687.3(AHCY): c.578A> G (p.Tyr193Cys) single nucleotide variant Uncertain significance rs772905203 GRCh37 Chromosome 20, 32878725: 32878725
42 AHCY NM_000687.3(AHCY): c.578A> G (p.Tyr193Cys) single nucleotide variant Uncertain significance rs772905203 GRCh38 Chromosome 20, 34290919: 34290919
43 AHCY NM_000687.3(AHCY): c.61G> A (p.Ala21Thr) single nucleotide variant Uncertain significance rs754753419 GRCh38 Chromosome 20, 34295553: 34295553
44 AHCY NM_000687.3(AHCY): c.61G> A (p.Ala21Thr) single nucleotide variant Uncertain significance rs754753419 GRCh37 Chromosome 20, 32883359: 32883359
45 AHCY NM_000687.3(AHCY): c.29-4G> A single nucleotide variant Uncertain significance rs774846394 GRCh38 Chromosome 20, 34295589: 34295589
46 AHCY NM_000687.3(AHCY): c.29-4G> A single nucleotide variant Uncertain significance rs774846394 GRCh37 Chromosome 20, 32883395: 32883395
47 AHCY NM_000687.3(AHCY): c.*679A> T single nucleotide variant Benign rs4239 GRCh37 Chromosome 20, 32868161: 32868161
48 AHCY NM_000687.3(AHCY): c.*679A> T single nucleotide variant Benign rs4239 GRCh38 Chromosome 20, 34280355: 34280355
49 AHCY NM_000687.3(AHCY): c.*678C> T single nucleotide variant Uncertain significance rs371150068 GRCh37 Chromosome 20, 32868162: 32868162
50 AHCY NM_000687.3(AHCY): c.*678C> T single nucleotide variant Uncertain significance rs371150068 GRCh38 Chromosome 20, 34280356: 34280356

Expression for Hypermethioninemia

Search GEO for disease gene expression data for Hypermethioninemia.

Pathways for Hypermethioninemia

Pathways related to Hypermethioninemia according to KEGG:

37
# Name Kegg Source Accession
1 Cysteine and methionine metabolism hsa00270
2 Selenocompound metabolism hsa00450
3 Glycine, serine and threonine metabolism hsa00260
4 Purine metabolism hsa00230

Pathways related to Hypermethioninemia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.55 ADK AHCY CAT CBS GNMT MAT1A
2
Show member pathways
11.96 AHCY CAT CBS MAT1A
3
Show member pathways
11.88 CAT CBS MAT1A MAT2A
4
Show member pathways
11.41 AHCY CBS MAT1A MAT2A
5
Show member pathways
11.15 CBS GNMT
6
Show member pathways
11.01 AHCY CBS MAT1A MAT2A
7
Show member pathways
10.81 CBS MAT1A MAT2A
8
Show member pathways
10.61 MAT1A MAT2A

GO Terms for Hypermethioninemia

Cellular components related to Hypermethioninemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.17 ADK AHCY CAT CBS GNMT MAT1A

Biological processes related to Hypermethioninemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 methylation GO:0032259 9.5 AHCY GNMT MAT1A
2 protein homotetramerization GO:0051289 9.43 CAT GNMT MAT1A
3 sulfur amino acid metabolic process GO:0000096 9.16 AHCY MAT1A
4 S-adenosylmethionine biosynthetic process GO:0006556 8.96 MAT1A MAT2A
5 one-carbon metabolic process GO:0006730 8.92 AHCY GNMT MAT1A MAT2A

Molecular functions related to Hypermethioninemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.62 ADK GNMT MAT1A MAT2A
2 heme binding GO:0020037 9.26 CAT CBS
3 S-adenosyl-L-methionine binding GO:1904047 9.16 CBS GNMT
4 identical protein binding GO:0042802 9.1 AHCY CAT CBS GNMT MAT1A MAT2A
5 methionine adenosyltransferase activity GO:0004478 8.96 MAT1A MAT2A

Sources for Hypermethioninemia

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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