Defective MAT1A causes Methionine adenosyltransferase deficiency (MATD)

Stable Identifier
R-HSA-5579024
Type
Pathway
Species
Homo sapiens
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S-adenosylmethionine (AdoMet, SAM) is an important methyl donor in most transmethylation reactions. S-adenosylmethionine synthase isoform type-1 (MAT1A) catalyses the formation of AdoMet from methionine and ATP. Defects in MAT1A can cause methionine adenosyltransferase deficiency (MATD; MIM:250850), an inborn error of metabolism resulting in hypermethioninemia. In this condition, methionine accumulates because its conversion to AdoMet is impaired (Furujo et al. 2012, Mudd 2011).

Literature References
PubMed ID Title Journal Year
22951388 Methionine adenosyltransferase I/III deficiency: neurological manifestations and relevance of S-adenosylmethionine

Furujo, M, Kinoshita, M, Nagao, M, Kubo, T

Mol. Genet. Metab. 2012
21308989 Hypermethioninemias of genetic and non-genetic origin: A review

Mudd, SH

Am J Med Genet C Semin Med Genet 2011
Participants
Participant Of
Disease
Name Identifier Synonyms
hypermethioninemia 0050544 HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY
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