Methionine Adenosyltransferase I/iii Deficiency (MATD)

Alias:

Mat I/iii Deficiency

Hepatic Methionine Adenosyltransferase Deficiency

Methionine Adenosyltransferase Deficiency

Mat Deficiency

Hypermethioninemia, Persistent, Autosomal Dominant, Due to Methionine Adenosyltransferase I/iii Deficiency

Methionine Adenosyltransferase Deficiency, Autosomal Recessive

Brain Demyelination Due to Methionine Adenosyltransferase Deficiency

Deficiency of Acetyl-Coa Acetyltransferase

Hypermethioninemia, Isolated Persistent

Isolated Persistent Hypermethioninemia

Mudd's Disease

Matd

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Methionine Adenosyltransferase I/iii Deficiency, also known as mat i/iii deficiency, is related to glycine n-methyltransferase deficiency and hypermethioninemia, and has symptoms including vomiting An important gene associated with Methionine Adenosyltransferase I/iii Deficiency is MAT1A (Methionine Adenosyltransferase 1A), and among its related pathways/superpathways are Metabolism and Peptide chain elongation. The drugs Lecithin and Racemethionine have been mentioned in the context of this disorder. Affiliated tissues include brain and bone marrow, and related phenotypes are intellectual disability and hyperreflexia

Related ID：

MALACARDS：MTH074

OMIM：250850

MESH：D000592