methionine adenosyltransferase deficiency
Findings
No curated finding names methionine adenosyltransferase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination.
Definition from the Mondo Disease Ontology (MONDO:0009607), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MAT1AHGNC:6903
- Definitive · Ambry Genetics · Autosomal recessive · 2025
- Definitive · ClinGen · Autosomal recessive · 2019
- Strong · Ambry Genetics · Autosomal dominant · 2020
- Strong · Ambry Genetics · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · G2P · Autosomal recessive · 2015
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
6 names
Resolves to: methionine adenosyltransferase deficiency
- Also called
- brain demyelination due to methionine adenosyltransferase deficiencyhypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiencyisolated persistent hypermethioninemiaMAT deficiencyMAT I/III deficiencymethionine adenosyltransferase deficiency, autosomal recessive