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methionine adenosyltransferase deficiency

Go to external page http://purl.obolibrary.org/obo/MONDO_0009607

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. [ Orphanet:168598 ]

Synonyms: MAT deficiency MAT I/III deficiency brain demyelination due to methionine adenosyltransferase deficiency isolated persistent hypermethioninemia methionine adenosyltransferase deficiency, autosomal recessive methionine adenosyltransferase deficiency hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency

This is just here as a test because I lose it

Term information

database cross reference
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521

exactMatch

https://omim.org/entry/250850

http://www.orpha.net/ORDO/Orphanet_168598

http://purl.obolibrary.org/obo/NCIT_C123435

has related synonym

hypermethioninemia, isolated persistent

methionine adenosyltransferase I/III deficiency

Mat I/III deficiency

id

MONDO:0009607

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0009607