Abstract
Methionine S-adenosyltransferase deficiency, due to mutations in MAT1A, is the most common cause of persistent isolated hypermethioninemia (PIH). While
the recessive form may cause neurological consequences, the dominant form is typically
benign. This condition may be found in asymptomatic infants through newborn screening
programs. We describe 16 asymptomatic individuals with PIH. Our data reiterates the
benign nature of PIH and reports two novel mutations in the gene. There were a disproportionate
number of individuals with African descent in this cohort.
Keywords
newborn screening - persistent isolated hypermethioninemia -
MAT1A mutation
