MET
MCID: HYP003
MIFTS: 44

Hypermethioninemia (MET)

Categories: Blood diseases, Genetic diseases, Metabolic diseases

Aliases & Classifications for Hypermethioninemia

MalaCards integrated aliases for Hypermethioninemia:

Name: Hypermethioninemia 12 25 36 29 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 61)
# Related Disease Score Top Affiliating Genes
1 hypermethioninemia due to adenosine kinase deficiency 34.7 LOC102723439 ADK
2 methionine adenosyltransferase i/iii deficiency 33.2 MAT1A CTH CBS
3 glycine n-methyltransferase deficiency 32.3 MAT2A MAT1A GNMT CBS BHMT AHCY
4 homocystinuria 30.4 MAT1A CBS BHMT
5 tyrosinemia, type i 29.4 SLC25A13 MAT1A GNMT FAH AHCY
6 homocysteinemia 29.2 CTH CBS BHMT AHCY
7 hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency 12.8
8 methionine adenosyltransferase deficiency 11.6
9 extraoral halitosis due to methanethiol oxidase deficiency 11.5
10 tyrosinemia 10.5
11 adenosine deaminase deficiency 10.2 AHCY ADK
12 homocystinuria due to cystathionine beta-synthase deficiency 10.2
13 liver disease 10.2
14 fatty liver disease 10.2
15 intestinal disaccharidase deficiency 10.2 MAT1A CAT
16 factor vii deficiency 10.2
17 phosphoribosylpyrophosphate synthetase superactivity 10.2
18 purine nucleoside phosphorylase deficiency 10.2
19 autosomal recessive disease 10.2
20 microcephaly 10.2
21 respiratory failure 10.2
22 cholestasis 10.2
23 biliary atresia 10.2
24 inherited metabolic disorder 10.2
25 citrullinemia, classic 10.1
26 cystinuria 10.1
27 galactosemia 10.1
28 visual epilepsy 10.1
29 purpura 10.1
30 myopathy 10.1
31 seizure disorder 10.1
32 hypertrichosis universalis congenita, ambras type 10.1 MAT2A MAT1A
33 pityriasis versicolor 10.1 CBSL CAT
34 hepatocellular carcinoma 10.1
35 non-alcoholic fatty liver disease 10.1
36 glucose intolerance 10.1
37 myositis 10.1
38 triiodothyronine receptor auxiliary protein 10.1
39 alpha-methylacetoacetic aciduria 10.1
40 phenylketonuria 10.1
41 citrullinemia, type ii, adult-onset 10.1
42 autosomal recessive non-syndromic intellectual disability 10.1
43 obstructive jaundice 10.1
44 toxic shock syndrome 10.1
45 pharyngitis 10.1
46 liver cirrhosis 10.1
47 impetigo 10.1
48 homocystinuria caused by cystathionine beta-synthase deficiency 10.1
49 mitochondrial disorders 10.1
50 biliary hypoplasia 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
2 Hypermethioninemia 29

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 134)
# Title Authors PMID Year
1
Streptococcal pyrogenic exotoxin B cleaves human S-adenosylhomocysteine hydrolase and induces hypermethioninemia. 54 61
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. 54 61
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. 54 61
11278456 2001
5
Methionine adenosyltransferase I/III deficiency: novel mutations and clinical variations. 54 61
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. 54 61
9042912 1997
10
Isolated persistent hypermethioninemia. 54 61
7573050 1995
11
[Inherited metabolic disorders of the transsulfuration pathway]. 54 61
1404882 1992
12
Analysis of five cases of hypermethioninemia diagnosed by neonatal screening. 61
31851615 2020
13
Hypermethioninemia induces memory deficits and morphological changes in hippocampus of young rats: implications on pathogenesis. 61
31902007 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
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 2019
16
Hypermethioninemia in Campania: Results from 10 years of newborn screening. 61
31641591 2019
17
The neuroprotective role of melatonin in a gestational hypermethioninemia model. 61
31476364 2019
18
Mild Persistent Isolated Hypermethioninemia Identified through Newborn Screening in Michigan. 61
31061746 2019
19
Control and regulation of S-Adenosylmethionine biosynthesis by the regulatory β subunit and quinolone-based compounds. 61
30776190 2019
20
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
21
Whole exome sequencing revealed mutations in FBXL4, UNC80, and ADK in Thai patients with severe intellectual disabilities. 61
30771478 2019
22
Neonatal methionine adenosyltransferase I/III deficiency with abnormal signal intensity in the central tegmental tract. 61
30389272 2019
23
Amyloid-like Structures Formed by Single Amino Acid Self-Assemblies of Cysteine and Methionine. 61
30380833 2019
24
Excessive Methionine Supplementation Exacerbates the Development of Abdominal Aortic Aneurysm in Rats. 61
31307051 2019
25
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
26
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
27
Adult classical homocystinuria requiring parenteral nutrition: Pitfalls and management. 61
28779878 2018
28
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
29
Methionine Administration in Pregnant Rats Causes Memory Deficit in the Offspring and Alters Ultrastructure in Brain Tissue. 61
29086391 2018
30
Maternal Hypermethioninemia Affects Neurons Number, Neurotrophins Levels, Energy Metabolism, and Na+,K+-ATPase Expression/Content in Brain of Rat Offspring. 61
28084592 2018
31
Methionine adenosyltransferase I/III deficiency: beyond the central nervous system manifestations. 61
29440907 2018
32
Confirmation that MAT1A p.Ala259Val mutation causes autosomal dominant hypermethioninemia. 61
28748147 2017
33
Acute administration of methionine and/or methionine sulfoxide impairs redox status and induces apoptosis in rat cerebral cortex. 61
28676970 2017
34
[Gene mutations in a newborn infant with hypermethioninemia]. 61
28899475 2017
35
[Analysis of MAT1A gene mutations in a child affected with simple hypermethioninemia]. 61
28186605 2017
36
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
37
Methionine and methionine sulfoxide treatment induces M1/classical macrophage polarization and modulates oxidative stress and purinergic signaling parameters. 61
27752805 2017
38
Potential Misdiagnosis of Hyperhomocysteinemia due to Cystathionine Beta-Synthase Deficiency During Pregnancy. 61
28275971 2017
39
Glycine N-Methyltransferase Deficiency: A Member of Dysmethylating Liver Disorders? 61
27207470 2017
40
Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders. 61
27671891 2017
41
Mechanistic basis of hypermethioninemia. 61
27465642 2016
42
Adenosine Kinase Deficiency in the Brain Results in Maladaptive Synaptic Plasticity. 61
27903722 2016
43
The remarkable S. Harvey Mudd - A reminiscence. 61
27177696 2016
44
Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options. 61
26642971 2016
45
Adenosine kinase deficiency with neurodevelopemental delay and recurrent hepatic dysfunction: A case report. 61
27500280 2016
46
Successive MRI Findings of Reversible Cerebral White Matter Lesions in a Patient with Cystathionine β-Synthase Deficiency. 61
26639091 2015
47
Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes. 61
26289392 2015
48
Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian Peninsula. 61
25638462 2015
49
MAT2A mutations predispose individuals to thoracic aortic aneurysms. 61
25557781 2015
50
Neutral aminoaciduria in cystathionine β-synthase-deficient mice; an animal model of homocystinuria. 61
24761004 2014

Variations for Hypermethioninemia

ClinVar genetic disease variations for Hypermethioninemia:

6 (show all 42) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ADK NM_006721.4(ADK):c.1088G>A (p.Ter363=)SNV Conflicting interpretations of pathogenicity 300843 rs148819558 10:76468202-76468202 10:74708444-74708444
2 AHCY NM_000687.4(AHCY):c.28+7C>TSNV Conflicting interpretations of pathogenicity 338282 rs201479827 20:32891042-32891042 20:34303236-34303236
3 AHCY NM_000687.4(AHCY):c.855-8C>TSNV Conflicting interpretations of pathogenicity 338272 rs370059571 20:32878263-32878263 20:34290457-34290457
4 AHCY NM_000687.4(AHCY):c.663T>C (p.Tyr221=)SNV Conflicting interpretations of pathogenicity 338274 rs58020044 20:32878640-32878640 20:34290834-34290834
5 AHCY NM_000687.4(AHCY):c.219+7C>GSNV Conflicting interpretations of pathogenicity 338279 rs200332864 20:32883194-32883194 20:34295388-34295388
6 AHCY NM_000687.4(AHCY):c.744C>T (p.Asn248=)SNV Conflicting interpretations of pathogenicity 338273 rs150175934 20:32878559-32878559 20:34290753-34290753
7 AHCY NM_000687.4(AHCY):c.-63A>GSNV Uncertain significance 338284 rs58942263 20:32891139-32891139 20:34303333-34303333
8 AHCY NM_000687.4(AHCY):c.559-13C>GSNV Uncertain significance 338276 rs763399683 20:32878757-32878757 20:34290951-34290951
9 AHCY NM_000687.4(AHCY):c.445+11C>TSNV Uncertain significance 338277 rs375253690 20:32880153-32880153 20:34292347-34292347
10 AHCY NM_000687.4(AHCY):c.219+8C>TSNV Uncertain significance 338278 rs768480898 20:32883193-32883193 20:34295387-34295387
11 AHCY NM_000687.4(AHCY):c.*678C>TSNV Uncertain significance 338265 rs371150068 20:32868162-32868162 20:34280356-34280356
12 AHCY NM_000687.4(AHCY):c.1170G>A (p.Leu390=)SNV Uncertain significance 338269 rs886056636 20:32868969-32868969 20:34281163-34281163
13 AHCY NM_000687.4(AHCY):c.918C>T (p.Ile306=)SNV Uncertain significance 338271 rs146829385 20:32878192-32878192 20:34290386-34290386
14 AHCY NM_000687.4(AHCY):c.-50A>CSNV Uncertain significance 338283 rs199791897 20:32891126-32891126 20:34303320-34303320
15 AHCY NM_001161766.1(AHCY):c.-56-7792G>ASNV Uncertain significance 338285 rs886056637 20:32891183-32891183 20:34303377-34303377
16 AHCY NM_000687.4(AHCY):c.1188A>T (p.Glu396Asp)SNV Uncertain significance 338268 rs886056635 20:32868951-32868951 20:34281145-34281145
17 ADK NM_006721.4(ADK):c.66-23966T>CSNV Uncertain significance 300834 rs886047235 10:75936556-75936556 10:74176798-74176798
18 ADK NM_006721.4(ADK):c.66-24009G>TSNV Uncertain significance 300833 rs886047234 10:75936513-75936513 10:74176755-74176755
19 ADK NM_006721.4(ADK):c.220A>G (p.Lys74Glu)SNV Uncertain significance 300836 rs201786575 10:76074450-76074450 10:74314692-74314692
20 ADK NM_006721.4(ADK):c.*157G>ASNV Uncertain significance 300844 rs886047237 10:76468360-76468360 10:74708602-74708602
21 ADK NM_006721.4(ADK):c.*337T>GSNV Uncertain significance 300845 rs886047238 10:76468540-76468540 10:74708782-74708782
22 ADK NM_006721.4(ADK):c.*375A>GSNV Uncertain significance 300846 rs185021662 10:76468578-76468578 10:74708820-74708820
23 AHCY NM_000687.4(AHCY):c.*621T>CSNV Uncertain significance 338266 rs886056634 20:32868219-32868219 20:34280413-34280413
24 AHCY NM_000687.4(AHCY):c.578A>G (p.Tyr193Cys)SNV Uncertain significance 338275 rs772905203 20:32878725-32878725 20:34290919-34290919
25 AHCY NM_000687.4(AHCY):c.61G>A (p.Ala21Thr)SNV Uncertain significance 338280 rs754753419 20:32883359-32883359 20:34295553-34295553
26 AHCY NM_000687.4(AHCY):c.29-4G>ASNV Uncertain significance 338281 rs774846394 20:32883395-32883395 20:34295589-34295589
27 ADK NM_006721.4(ADK):c.66-24106T>CSNV Uncertain significance 300831 rs192064997 10:75936416-75936416 10:74176658-74176658
28 ADK NM_006721.4(ADK):c.66-24083G>CSNV Uncertain significance 300832 rs886047233 10:75936439-75936439 10:74176681-74176681
29 ADK NM_006721.4(ADK):c.441C>T (p.Asp147=)SNV Uncertain significance 300838 rs886047236 10:76154066-76154066 10:74394308-74394308
30 ADK NM_006721.4(ADK):c.726+11T>GSNV Uncertain significance 300840 rs45529443 10:76285195-76285195 10:74525437-74525437
31 ADK NM_006721.4(ADK):c.763-9T>CSNV Uncertain significance 300842 rs780824505 10:76360128-76360128 10:74600370-74600370
32 ADK NM_006721.4(ADK):c.*740C>TSNV Uncertain significance 300848 rs150465356 10:76468943-76468943 10:74709185-74709185
33 ADK NM_006721.4(ADK):c.66-24151A>TSNV Uncertain significance 300830 rs886047232 10:75936371-75936371 10:74176613-74176613
34 ADK NM_006721.4(ADK):c.259A>G (p.Ile87Val)SNV Uncertain significance 300837 rs201734294 10:76074489-76074489 10:74314731-74314731
35 ADK NM_006721.4(ADK):c.705T>C (p.Asp235=)SNV Likely benign 300839 rs16931480 10:76285163-76285163 10:74525405-74525405
36 ADK NM_006721.4(ADK):c.727-11T>CSNV Likely benign 300841 rs12778270 10:76349029-76349029 10:74589271-74589271
37 AHCY NM_000687.4(AHCY):c.*301T>GSNV Likely benign 338267 rs13245 20:32868539-32868539 20:34280733-34280733
38 AHCY NM_000687.4(AHCY):c.973-7C>TSNV Benign 338270 rs17091705 20:32873447-32873447 20:34285641-34285641
39 ADK NM_006721.4(ADK):c.66-23911C>TSNV Benign 300835 rs10824095 10:75936611-75936611 10:74176853-74176853
40 ADK NM_006721.4(ADK):c.*648C>TSNV Benign 300847 rs1189553 10:76468851-76468851 10:74709093-74709093
41 AHCY NM_000687.4(AHCY):c.*679A>TSNV Benign 338264 rs4239 20:32868161-32868161 20:34280355-34280355
42 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
13.79 SLC25A13 MAT2A MAT1A GNMT FAH CTH
2
Show member pathways
13.51 MAT1A GNMT FAH CTH CBSL CBS
3
Show member pathways
12.1 MAT1A CTH CBS CAT AHCY
4
Show member pathways
11.89 MAT2A MAT1A CTH CBS BHMT AHCY
5
Show member pathways
11.83 MAT2A MAT1A CTH CBSL CBS CAT
6 11.66 FAH CTH CBS BHMT
7
Show member pathways
11.27 GNMT CTH CBSL CBS BHMT
8
Show member pathways
11.26 MAT2A MAT1A CTH CBSL CBS BHMT
9
Show member pathways
11.02 MAT2A MAT1A CBS
10
Show member pathways
10.68 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 9.32 MAT2A MAT1A GNMT FAH CTH CBS

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 methylation GO:0032259 9.8 MAT2A MAT1A GNMT BHMT AHCY
2 protein homotetramerization GO:0051289 9.73 MAT1A GNMT CTH CAT
3 cellular amino acid biosynthetic process GO:0008652 9.65 CTH CBSL CBS
4 transsulfuration GO:0019346 9.54 CTH CBSL CBS
5 homocysteine metabolic process GO:0050667 9.52 CBSL CBS
6 S-adenosylmethionine metabolic process GO:0046500 9.51 GNMT BHMT
7 sulfur amino acid metabolic process GO:0000096 9.5 MAT1A BHMT AHCY
8 S-adenosylmethionine biosynthetic process GO:0006556 9.49 MAT2A MAT1A
9 cysteine biosynthetic process from serine GO:0006535 9.46 CBSL CBS
10 hydrogen sulfide biosynthetic process GO:0070814 9.43 CTH CBSL CBS
11 cysteine biosynthetic process GO:0019344 9.33 CTH CBSL CBS
12 one-carbon metabolic process GO:0006730 9.26 MAT2A MAT1A GNMT AHCY
13 cysteine biosynthetic process via cystathionine GO:0019343 8.8 CTH CBSL CBS

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

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 10.07 SLC25A13 PRICKLE4 MAT2A MAT1A FAH CBSL
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 9.4 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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