MCID: MTH011
MIFTS: 17

Methionine Adenosyltransferase Deficiency

Categories: Rare diseases

Aliases & Classifications for Methionine Adenosyltransferase Deficiency

MalaCards integrated aliases for Methionine Adenosyltransferase Deficiency:

Name: Methionine Adenosyltransferase Deficiency 20
Hepatic Methionine Adenosyltransferase Deficiency 70
Deficiency of Acetyl-Coa Acetyltransferase 70
Mat Deficiency 20

Classifications:



External Ids:

UMLS 70 C0268621 C1536500

Summaries for Methionine Adenosyltransferase Deficiency

GARD : 20 Methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in an isolated increase of the amino acid methionine in the blood (hypermethioninemia). In most cases there are no symptoms and it is usually a benign condition, but some patients may present with neurologic or developmental problems and/or bad breath. It is caused by mutations in the MAT1A gene. Inheritance is autosomal recessive. When needed, treatment is with a diet restricting methionine. S-adenosylmethionine (SAMe) supplementation may also be useful.

MalaCards based summary : Methionine Adenosyltransferase Deficiency, also known as hepatic methionine adenosyltransferase deficiency, is related to methionine adenosyltransferase i/iii deficiency and hypermethioninemia, and has symptoms including vomiting An important gene associated with Methionine Adenosyltransferase Deficiency is MAT1A (Methionine Adenosyltransferase 1A). The drugs Methionine and Lecithin have been mentioned in the context of this disorder. Affiliated tissues include bone and bone marrow.

Related Diseases for Methionine Adenosyltransferase Deficiency

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

# Related Disease Score Top Affiliating Genes
1 methionine adenosyltransferase i/iii deficiency 11.9
2 hypermethioninemia 11.7
3 alpha-methylacetoacetic aciduria 11.3
4 glycine n-methyltransferase deficiency 11.3
5 extraoral halitosis due to methanethiol oxidase deficiency 11.3
6 homocystinuria due to cystathionine beta-synthase deficiency 10.1
7 liver disease 10.1
8 tyrosinemia 10.1

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



Diseases related to Methionine Adenosyltransferase Deficiency

Symptoms & Phenotypes for Methionine Adenosyltransferase Deficiency

UMLS symptoms related to Methionine Adenosyltransferase Deficiency:


vomiting

Drugs & Therapeutics for Methionine Adenosyltransferase Deficiency

Drugs for Methionine Adenosyltransferase Deficiency (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 Experimental 8002-43-5

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 Methionine Adenosyltransferase Deficiency

Genetic Tests for Methionine Adenosyltransferase Deficiency

Anatomical Context for Methionine Adenosyltransferase Deficiency

MalaCards organs/tissues related to Methionine Adenosyltransferase Deficiency:

40
Bone, Bone Marrow

Publications for Methionine Adenosyltransferase Deficiency

Articles related to Methionine Adenosyltransferase Deficiency:

(show all 27)
# Title Authors PMID Year
1
Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders. 20
27671891 2017
2
Familial hypermethioninemia partially responsive to dietary restriction. 20
2380820 1990
3
Structural basis of the dominant inheritance of hypermethioninemia associated with the Arg264His mutation in the MAT1A gene. 61
32496220 2020
4
Hypermethioninemia in Campania: Results from 10 years of newborn screening. 61
31641591 2019
5
Beta-ketothiolase deficiency in a Malaysian infant. 61
31079130 2019
6
Methionine adenosyltransferase I/III deficiency: beyond the central nervous system manifestations. 61
29440907 2018
7
Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency. 61
28689740 2017
8
Bone Marrow Adipose Tissue Deficiency Increases Disuse-Induced Bone Loss in Male Mice. 61
28402337 2017
9
Beta-ketothiolase deficiency: An unusual cause of recurrent ketoacidosis. 61
29624230 2017
10
S-adenosylmethionine treatment in methionine adenosyltransferase deficiency, a case report. 61
22178350 2012
11
Methionine Adenosyltransferase I/III Deficiency in Portugal: High Frequency of a Dominantly Inherited Form in a Small Area of Douro High Lands. 61
23430947 2012
12
Inherited disorders in the conversion of methionine to homocysteine. 61
19585268 2009
13
Reversible leukoencephalopathy with acute neurological deterioration and permanent residua in classical homocystinuria: A case report. 61
18210212 2008
14
Effect of hypermethioninemia on some parameters of oxidative stress and on Na(+),K (+)-ATPase activity in hippocampus of rats. 61
17473966 2007
15
Rickettsial metK-encoded methionine adenosyltransferase expression in an Escherichia coli metK deletion strain. 61
16077118 2005
16
Spectrum of hypermethioninemia in neonatal screening. 61
15935930 2005
17
Molecular genetics of hepatic methionine adenosyltransferase deficiency. 61
10674710 2000
18
Isolated persistent hypermethioninemia. 61
7573050 1995
19
Molecular mechanisms of an inborn error of methionine pathway. Methionine adenosyltransferase deficiency. 61
7560086 1995
20
Association of demyelination with deficiency of cerebrospinal-fluid S-adenosylmethionine in inborn errors of methyl-transfer pathway. 61
1683972 1991
21
Cystathionine-synthase-deficient patients do not use the transamination pathway of methionine to reduce hypermethioninemia and homocystinemia. 61
2725296 1989
22
Transamination of methionine in humans. 61
2920533 1989
23
Transsulfuration in an adult with hepatic methionine adenosyltransferase deficiency. 61
3339126 1988
24
Hepatic methionine adenosyltransferase deficiency in a 31-year-old man. 61
3812486 1987
25
Hypermethioninemia associated with methionine adenosyltransferase deficiency: clinical, morphologic, and biochemical observations on four patients. 61
7229751 1981
26
Hypermethioninemia in an infant. 61
564605 1978
27
Methionine adenosyltransferase deficiency: new enzymatic defect associated with hypermethioninemia. 61
4421454 1974

Variations for Methionine Adenosyltransferase Deficiency

Expression for Methionine Adenosyltransferase Deficiency

Search GEO for disease gene expression data for Methionine Adenosyltransferase Deficiency.

Pathways for Methionine Adenosyltransferase Deficiency

GO Terms for Methionine Adenosyltransferase Deficiency

Sources for Methionine Adenosyltransferase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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