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 53
Hepatic Methionine Adenosyltransferase Deficiency 73
Deficiency of Acetyl-Coa Acetyltransferase 73
Mat Deficiency 53

Classifications:



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Summaries for Methionine Adenosyltransferase Deficiency

NIH Rare Diseases : 53 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.

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 12.1
2 hypermethioninemia 11.9
3 alpha-methylacetoacetic aciduria 11.2
4 glycine n-methyltransferase deficiency 11.2
5 hepatitis 10.2

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 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 Deficiency

Genetic Tests for Methionine Adenosyltransferase Deficiency

Anatomical Context for Methionine Adenosyltransferase Deficiency

Publications for Methionine Adenosyltransferase Deficiency

Articles related to Methionine Adenosyltransferase Deficiency:

# Title Authors Year
1
S-adenosylmethionine treatment in methionine adenosyltransferase deficiency, a case report. ( 22178350 )
2012
2
Molecular genetics of hepatic methionine adenosyltransferase deficiency. ( 10674710 )
2000
3
Molecular mechanisms of an inborn error of methionine pathway. Methionine adenosyltransferase deficiency. ( 7560086 )
1995
4
Transsulfuration in an adult with hepatic methionine adenosyltransferase deficiency. ( 3339126 )
1988
5
Hepatic methionine adenosyltransferase deficiency in a 31-year-old man. ( 3812486 )
1987
6
Hypermethioninemia associated with methionine adenosyltransferase deficiency: clinical, morphologic, and biochemical observations on four patients. ( 7229751 )
1981
7
Methionine adenosyltransferase deficiency: new enzymatic defect associated with hypermethioninemia. ( 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 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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