MET
MCID: HYP003
MIFTS: 40

Hypermethioninemia (MET)

Categories: Blood diseases, Metabolic diseases

Aliases & Classifications for Hypermethioninemia

MalaCards integrated aliases for Hypermethioninemia:

Name: Hypermethioninemia 12 25 36 54 6 15 71
Hepatic Methionine Adenosyltransferase Deficiency 25 29 6 39 17 71
Glycine N-Methyltransferase Deficiency 25 71
Deficiency of Methionine Adenosyltransferase 25
S-Adenosylhomocysteine Hydrolase Deficiency 25
Deficiency of Acetyl-Coa Acetyltransferase 71
Methionine Adenosyltransferase Deficiency 25
Gnmt Deficiency 25
Mat Deficiency 25
Methioninemia 25
Met 25

Classifications:



External Ids:

Disease Ontology 12 DOID:0050544
KEGG 36 H00184
UMLS 71 C0268621 C1536500 C1847720 more

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. People with hypermethioninemia often do not show any symptoms. Some individuals with hypermethioninemia exhibit intellectual disability and other neurological problems; delays in motor skills such as standing or walking; sluggishness; muscle weakness; liver problems; unusual facial features; and their breath, sweat, or urine may have a smell resembling boiled cabbage. Hypermethioninemia can occur with other metabolic disorders, such as homocystinuria, tyrosinemia and galactosemia, which also involve the faulty breakdown of particular molecules. It can also result from liver disease or excessive dietary intake of methionine from consuming large amounts of protein or a methionine-enriched infant formula.

MalaCards based summary : Hypermethioninemia, also known as hepatic methionine adenosyltransferase deficiency, is related to hypermethioninemia due to adenosine kinase deficiency and methionine adenosyltransferase i/iii 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. The drugs Methionine and Lecithin have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and cortex, and related phenotype is liver/biliary system.

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.

KEGG : 36 Hypermethioninemia is an inborn error of methionine metabolism.

Wikipedia : 74 Hypermethioninemia is an excess of the amino acid methionine, in the blood. This condition can occur... more...

Related Diseases for Hypermethioninemia

Diseases related to Hypermethioninemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 hypermethioninemia due to adenosine kinase deficiency 34.7 LOC102723439 ADK
2 methionine adenosyltransferase i/iii deficiency 33.3 MAT1A CTH CBS
3 glycine n-methyltransferase deficiency 32.6 MAT2A MAT1A GNMT CBS BHMT AHCY
4 citrullinemia, type ii, adult-onset 30.2 SLC25A13 AHCY
5 citrullinemia, classic 30.1 SLC25A13 GNMT AHCY
6 tyrosinemia, type i 29.9 GNMT FAH AHCY
7 homocystinuria 29.9 MAT1A CTH CBSL CBS BHMT
8 homocysteinemia 29.6 CTH CBS BHMT AHCY
9 hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency 12.8
10 methionine adenosyltransferase deficiency 11.6
11 extraoral halitosis due to methanethiol oxidase deficiency 11.5
12 tyrosinemia 10.5
13 homocystinuria due to cystathionine beta-synthase deficiency 10.2
14 liver disease 10.2
15 fatty liver disease 10.2
16 intestinal disaccharidase deficiency 10.2 MAT1A CAT
17 cholestasis 10.2
18 biliary atresia 10.2
19 inherited metabolic disorder 10.2
20 factor vii deficiency 10.2
21 phosphoribosylpyrophosphate synthetase superactivity 10.2
22 purine nucleoside phosphorylase deficiency 10.2
23 autosomal recessive disease 10.2
24 microcephaly 10.2
25 respiratory failure 10.2
26 adenosine deaminase deficiency 10.2 AHCY ADK
27 pityriasis versicolor 10.2 CBSL CAT
28 cystinuria 10.1
29 galactosemia i 10.1
30 visual epilepsy 10.1
31 purpura 10.1
32 myopathy 10.1
33 seizure disorder 10.1
34 choline deficiency disease 10.1 BHMT AHCY
35 hypertrichosis universalis congenita, ambras type 10.1 MAT2A MAT1A
36 hepatocellular carcinoma 10.1
37 niemann-pick disease, type c2 10.1
38 non-alcoholic fatty liver disease 10.1
39 glucose intolerance 10.1
40 myositis 10.1
41 triiodothyronine receptor auxiliary protein 10.1
42 alpha-methylacetoacetic aciduria 10.1
43 phenylketonuria 10.1
44 autosomal recessive non-syndromic intellectual disability 10.1
45 obstructive jaundice 10.1
46 toxic shock syndrome 10.1
47 pharyngitis 10.1
48 liver cirrhosis 10.1
49 impetigo 10.1
50 homocystinuria caused by cystathionine beta-synthase deficiency 10.1

Graphical network of the top 20 diseases related to Hypermethioninemia:



Diseases related to Hypermethioninemia

Symptoms & Phenotypes for Hypermethioninemia

UMLS symptoms related to Hypermethioninemia:


vomiting

MGI Mouse Phenotypes related to Hypermethioninemia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.23 ADK BHMT CBSL CTH FAH GNMT

Drugs & Therapeutics for Hypermethioninemia

Drugs for Hypermethioninemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methionine Approved, Nutraceutical 63-68-3 6137
2 Lecithin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of Phosphatidylcholine in a Patient With Methionine Adenosyltransferase Deficiency Completed NCT00006061 phosphatidylcholine

Search 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

Anatomical Context for Hypermethioninemia

MalaCards organs/tissues related to Hypermethioninemia:

40
Liver, Brain, Cortex, Heart, Kidney, Pancreas

Publications for Hypermethioninemia

Articles related to Hypermethioninemia:

(show top 50) (show all 138)
# Title Authors PMID Year
1
Streptococcal pyrogenic exotoxin B cleaves human S-adenosylhomocysteine hydrolase and induces hypermethioninemia. 61 54
18522500 2008
2
Spectrum of hypermethioninemia in neonatal screening. 54 61
15935930 2005
3
Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trap. 61 54
12765841 2003
4
Biochemical basis for the dominant inheritance of hypermethioninemia associated with the R264H mutation of the MAT1A gene. A monomeric methionine adenosyltransferase with tripolyphosphatase activity. 61 54
11278456 2001
5
Methionine adenosyltransferase I/III deficiency: novel mutations and clinical variations. 61 54
10677294 2000
6
Molecular genetics of hepatic methionine adenosyltransferase deficiency. 54 61
10674710 2000
7
Normal brain myelination in a patient homozygous for a mutation that encodes a severely truncated methionine adenosyltransferase I/III. 54 61
9482646 1998
8
Genetic analysis of isolated persistent hypermethioninemia with dominant inheritance. 54 61
9363660 1997
9
Dominant inheritance of isolated hypermethioninemia is associated with a mutation in the human methionine adenosyltransferase 1A gene. 61 54
9042912 1997
10
Isolated persistent hypermethioninemia. 61 54
7573050 1995
11
[Inherited metabolic disorders of the transsulfuration pathway]. 54 61
1404882 1992
12
Structural basis of the dominant inheritance of hypermethioninemia associated with the Arg264His mutation in the MAT1A gene. 61
32496220 2020
13
Withdrawal Effects Following Methionine Exposure in Adult Zebrafish. 61
32533465 2020
14
Novel method for l-methionine determination using l-methionine decarboxylase and application of the enzyme for l-homocysteine determination. 61
31959065 2020
15
Characterization of macrophage phenotype, redox, and purinergic response upon chronic treatment with methionine and methionine sulfoxide in mice. 61
32246211 2020
16
Methionine and methionine sulfoxide induces neurochemical and morphological changes in cultured astrocytes: Involvement of Na+, K+-ATPase activity, oxidative status, and cholinergic and purinergic signaling. 61
31883448 2020
17
Hypermethioninemia induces memory deficits and morphological changes in hippocampus of young rats: implications on pathogenesis. 61
31902007 2020
18
Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence. 61
32154053 2020
19
Analysis of five cases of hypermethioninemia diagnosed by neonatal screening. 61
31851615 2020
20
Hypermethioninemia in Campania: Results from 10 years of newborn screening. 61
31641591 2019
21
The neuroprotective role of melatonin in a gestational hypermethioninemia model. 61
31476364 2019
22
Mild Persistent Isolated Hypermethioninemia Identified through Newborn Screening in Michigan. 61
31061746 2019
23
Control and regulation of S-Adenosylmethionine biosynthesis by the regulatory β subunit and quinolone-based compounds. 61
30776190 2019
24
Plasma methionine concentrations and incidence of hypermethioninemic encephalopathy during infancy in a large cohort of 36 patients with classical homocystinuria in the Republic of Ireland. 61
31240166 2019
25
Whole exome sequencing revealed mutations in FBXL4, UNC80, and ADK in Thai patients with severe intellectual disabilities. 61
30771478 2019
26
Neonatal methionine adenosyltransferase I/III deficiency with abnormal signal intensity in the central tegmental tract. 61
30389272 2019
27
Amyloid-like Structures Formed by Single Amino Acid Self-Assemblies of Cysteine and Methionine. 61
30380833 2019
28
Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population. 61
31737040 2019
29
Excessive Methionine Supplementation Exacerbates the Development of Abdominal Aortic Aneurysm in Rats. 61
31307051 2019
30
High levels of methionine and methionine sulfoxide: Impact on adenine nucleotide hydrolysis and redox status in platelets and serum of young rats. 61
30216509 2018
31
Adult classical homocystinuria requiring parenteral nutrition: Pitfalls and management. 61
28779878 2018
32
Methionine and/or Methionine Sulfoxide Alter Ectoenzymes Activities in Lymphocytes and Inflammatory Parameters in Serum from Young Rats: Acute and Chronic Effects. 61
28726179 2018
33
Methionine Administration in Pregnant Rats Causes Memory Deficit in the Offspring and Alters Ultrastructure in Brain Tissue. 61
29086391 2018
34
Maternal Hypermethioninemia Affects Neurons Number, Neurotrophins Levels, Energy Metabolism, and Na+,K+-ATPase Expression/Content in Brain of Rat Offspring. 61
28084592 2018
35
Methionine adenosyltransferase I/III deficiency: beyond the central nervous system manifestations. 61
29440907 2018
36
Confirmation that MAT1A p.Ala259Val mutation causes autosomal dominant hypermethioninemia. 61
28748147 2017
37
Acute administration of methionine and/or methionine sulfoxide impairs redox status and induces apoptosis in rat cerebral cortex. 61
28676970 2017
38
[Gene mutations in a newborn infant with hypermethioninemia]. 61
28899475 2017
39
[Analysis of MAT1A gene mutations in a child affected with simple hypermethioninemia]. 61
28186605 2017
40
Chronic administration of methionine and/or methionine sulfoxide alters oxidative stress parameters and ALA-D activity in liver and kidney of young rats. 61
27718024 2017
41
Methionine and methionine sulfoxide treatment induces M1/classical macrophage polarization and modulates oxidative stress and purinergic signaling parameters. 61
27752805 2017
42
Potential Misdiagnosis of Hyperhomocysteinemia due to Cystathionine Beta-Synthase Deficiency During Pregnancy. 61
28275971 2017
43
Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders. 61
27671891 2017
44
Glycine N-Methyltransferase Deficiency: A Member of Dysmethylating Liver Disorders? 61
27207470 2017
45
Mechanistic basis of hypermethioninemia. 61
27465642 2016
46
Adenosine Kinase Deficiency in the Brain Results in Maladaptive Synaptic Plasticity. 61
27903722 2016
47
The remarkable S. Harvey Mudd - A reminiscence. 61
27177696 2016
48
Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options. 61
26642971 2016
49
Adenosine kinase deficiency with neurodevelopemental delay and recurrent hepatic dysfunction: A case report. 61
27500280 2016
50
Successive MRI Findings of Reversible Cerebral White Matter Lesions in a Patient with Cystathionine β-Synthase Deficiency. 61
26639091 2015

Variations for Hypermethioninemia

ClinVar genetic disease variations for Hypermethioninemia:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AHCY NM_000687.4(AHCY):c.1170G>A (p.Leu390=)SNV Uncertain significance 338269 rs886056636 20:32868969-32868969 20:34281163-34281163
2 AHCY NM_001161766.1(AHCY):c.-56-7792G>ASNV Uncertain significance 338285 rs886056637 20:32891183-32891183 20:34303377-34303377
3 AHCY NM_001161766.1(AHCY):c.-56-7809C>ASNV Benign 338286 rs819146 20:32891200-32891200 20:34303394-34303394

Expression for Hypermethioninemia

Search GEO for disease gene expression data for Hypermethioninemia.

Pathways for Hypermethioninemia

Pathways related to Hypermethioninemia according to KEGG:

36
# 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
13.82 SLC25A13 MAT2B MAT2A MAT1A GNMT FAH
2
Show member pathways
13.53 MAT1A GNMT FAH CTH CBSL CBS
3
Show member pathways
12.13 MAT1A CTH CBS CAT AHCY
4
Show member pathways
11.88 MAT2B MAT2A MAT1A CTH CBSL CBS
5
Show member pathways
11.85 MAT2B MAT2A MAT1A CTH CBS BHMT
6 11.72 FAH CTH CBS BHMT
7
Show member pathways
11.37 GNMT CTH CBSL CBS BHMT
8
Show member pathways
11.32 MAT2B MAT2A MAT1A CTH CBSL CBS
9
Show member pathways
11.07 MAT2B MAT2A MAT1A CBS
10
Show member pathways
10.81 MAT2B MAT2A MAT1A

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 9.7 MAT2B MAT2A MAT1A GNMT FAH CTH
2 methionine adenosyltransferase complex GO:0048269 8.62 MAT2B MAT2A

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 protein homotetramerization GO:0051289 9.67 MAT1A GNMT CTH
2 cellular amino acid biosynthetic process GO:0008652 9.65 CTH CBSL CBS
3 methylation GO:0032259 9.63 MAT2B MAT2A MAT1A GNMT BHMT AHCY
4 transsulfuration GO:0019346 9.61 CTH CBSL CBS
5 sulfur amino acid metabolic process GO:0000096 9.58 MAT1A BHMT AHCY
6 hydrogen sulfide biosynthetic process GO:0070814 9.54 CTH CBSL CBS
7 homocysteine metabolic process GO:0050667 9.52 CBSL CBS
8 S-adenosylmethionine metabolic process GO:0046500 9.51 GNMT BHMT
9 cysteine biosynthetic process GO:0019344 9.5 CTH CBSL CBS
10 cysteine biosynthetic process from serine GO:0006535 9.46 CBSL CBS
11 S-adenosylmethionine biosynthetic process GO:0006556 9.43 MAT2B MAT2A MAT1A
12 cysteine biosynthetic process via cystathionine GO:0019343 9.13 CTH CBSL CBS
13 one-carbon metabolic process GO:0006730 9.02 MAT2B MAT2A MAT1A GNMT AHCY

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

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 10.06 SLC25A13 MAT2A MAT1A FAH CBSL CBS
2 lyase activity GO:0016829 9.63 CTH CBSL CBS
3 heme binding GO:0020037 9.61 CBSL CBS CAT
4 pyridoxal phosphate binding GO:0030170 9.5 CTH CBSL CBS
5 S-adenosyl-L-methionine binding GO:1904047 9.37 GNMT CBS
6 methionine adenosyltransferase activity GO:0004478 9.26 MAT2A MAT1A
7 identical protein binding GO:0042802 9.23 SLC25A13 MAT2A MAT1A GNMT CTH CBS
8 cysteine synthase activity GO:0004124 9.16 CBSL CBS
9 cystathionine beta-synthase activity GO:0004122 8.96 CBSL CBS

Sources for Hypermethioninemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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