TY - JOUR AU - Sen, Kuntal; Felice, Michael D.; Bannick, Allison; Colombo, Roberto; Conway, Robert L. TI - Mild Persistent Isolated Hypermethioninemia Identified through Newborn Screening in Michigan SN - 2146-4596 SN - 2146-460X PY - 2019 JO - J Pediatr Genet JF - Journal of Pediatric Genetics LA - EN VL - 08 IS - 02 SP - 054 EP - 057 ET - 2019/03/27 DA - 2019/05/03 KW - newborn screening KW - persistent isolated hypermethioninemia KW - MAT1A mutation AB - 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. PB - Georg Thieme Verlag KG DO - 10.1055/s-0039-1683900 UR - http://www.thieme-connect.de/products/ejournals/abstract/10.1055/s-0039-1683900 ER -