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J Pediatr Genet. 2019 Jun;8(2):54-57. doi: 10.1055/s-0039-1683900. Epub 2019 Mar 27.

Mild Persistent Isolated Hypermethioninemia Identified through Newborn Screening in Michigan.

Author information

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.
3
Center for the Study of Rare Inherited Diseases (CeSMER), Niguarda Ca' Granda Metropolitan Hospital, Milan, Italy.

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:

MAT1A mutation ; newborn screening; persistent isolated hypermethioninemia

PMID:
31061746
PMCID:
PMC6499608
[Available on 2020-06-01]
DOI:
10.1055/s-0039-1683900

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