Article
Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening.
Molecular genetics and metabolism - 1 Nov 2013
Couce María L, Bóveda M Dolores, García-Jimémez Concepción, Balmaseda Elena, Vives Inmaculada, Castiñeiras Daisy E, Fernández-Marmiesse Ana, Fraga José M, Mudd S Harvey, Corrales Fernando J
Abstract excerpt
Persistent hypermethioninemia due to mutations in the MAT1A gene is often found during newborn screening (NBS) for homocystinuria due to cystathionine beta-synthase deficiency, however, outcomes and optimal management for these patients are not well established. We carried out a multicenter study of MAT I/III-deficient patients detected by NBS in four of the Spanish regional NBS programs. Data evaluated during...
Topics
- Amino Acid Metabolism, Inborn Errors
- Female
- Follow-Up Studies
- Glycine N-Methyltransferase
- Humans
- Infant, Newborn
- Male
- Methionine
- Methionine Adenosyltransferase
- Mutation