Methionine adenosyltransferase deficiency

Disease Overview

Methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in an isolated increase of the amino acid methionine in the blood (hypermethioninemia). In most cases there are no symptoms and it is usually a benign condition, but some patients may present with neurologic or developmental problems and/or bad breath. It is caused by mutations in the MAT1A gene. Inheritance is autosomal recessive.[1] When needed, treatment is with a diet restricting methionine.[12690][12692] S-adenosylmethionine (SAMe) supplementation may also be useful.[12692]

Synonyms

• MAT deficiency