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Orphanet References OMIM Gene GeneReviews HGMD HGNC
last update : 19/07/2006
Symbol MAT1A
Location 10q23.1
Name methionine adenosyltransferase deficiency
Other name(s) hypermethioninemia, isolated, persistent
Corresponding gene MAT1A
Main clinical features brain demyelination in homozygote
Genetic determination autosomal recessive
Related entries . including forms with a milder phenotype . including any cases of benign autosomal dominant form
Function/system disorder metabolism/aminoacids
Type disease
Gene product
Name methionine adenosyltransferase, liver (MAT1A)