J Pediatr Genet 2019; 08(02): 054-057
DOI: 10.1055/s-0039-1683900
Original Article
Georg Thieme Verlag KG Stuttgart · New York

Mild Persistent Isolated Hypermethioninemia Identified through Newborn Screening in Michigan

Kuntal Sen
1  Division of Genetic, Genomic and Metabolic Disorders, Children's Hospital of Michigan, Detroit, Michigan, United States
2  Wayne State University School of Medicine, Detroit, Michigan, United States
,
Michael D. Felice
2  Wayne State University School of Medicine, Detroit, Michigan, United States
,
Allison Bannick
1  Division of Genetic, Genomic and Metabolic Disorders, Children's Hospital of Michigan, Detroit, Michigan, United States
,
Roberto Colombo
3  Center for the Study of Rare Inherited Diseases (CeSMER), Niguarda Ca' Granda Metropolitan Hospital, Milan, Italy
,
Robert L. Conway
1  Division of Genetic, Genomic and Metabolic Disorders, Children's Hospital of Michigan, Detroit, Michigan, United States
2  Wayne State University School of Medicine, Detroit, Michigan, United States
› Author Affiliations
Further Information

Publication History

28 December 2018

08 February 2019

Publication Date:
27 March 2019 (eFirst)

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.