Methionine Adenosyltransferase I/III Deficiency in Portugal: High Frequency of a Dominantly Inherited Form in a Small Area of Douro High Lands
- 1 February 2012
- book chapter
- research article
- Published by Springer Science and Business Media LLC in JIMD Reports
- Vol. 6, 107-112
- https://doi.org/10.1007/8904_2011_124
Abstract
Methionine adenosyltransferase deficiency (MAT I/III deficiency) is an inborn error of metabolism resulting in isolated hypermethioninemia, and usually inherited as an autosomal recessive trait, although a dominant form has been reported in several families. During the last 6 years, approximately 520,000 newborns were screened in the Portuguese Newborn Screening Laboratory by MS/MS, and 21 cases of persistent hypermethioninemia were found. One case was confirmed to be a deficiency of cystathionine β-synthase and 20 cases were confirmed by MAT1A gene analysis to have an elevation of methionine due to MAT I/III deficiency, which indicates an incidence for this condition of 1/26,000. Twelve of the MAT I/III deficient newborns, belonging to 11 families, were identified in the northern region of Portugal and sent to the same treatment center, where they are under follow-up. Clinical, biochemical, and genetic characteristics of individuals from these 11 families are presented. Plasma methionine and homocysteine concentrations were found to be moderately increased in all newborns, and molecular analysis revealed that they all were heterozygous for R264H mutation. Normal growth, development, and neurological examination were observed in all cases, and cerebral MRI performed in six cases revealed myelination abnormalities in one case. Plasma methionine concentration for all 12 cases was always below 300 μM, and they are all on a normal diet for their age.This publication has 14 references indexed in Scilit:
- The homocysteine controversyJournal of Inherited Metabolic Disease, 2010
- Four years of expanded newborn screening in Portugal with tandem mass spectrometryJournal of Inherited Metabolic Disease, 2010
- Inherited disorders in the conversion of methionine to homocysteineJournal of Inherited Metabolic Disease, 2009
- Methionine adenosyltransferase (MAT) I/III deficiency with concurrent hyperhomocysteinaemia: Two novel casesJournal of Inherited Metabolic Disease, 2005
- Spectrum of hypermethioninemia in neonatal screeningEarly Human Development, 2005
- Biochemical Basis for the Dominant Inheritance of Hypermethioninemia Associated with the R264H Mutation of theMAT1A GeneOnline Journal of Public Health Informatics, 2001
- Methionine Adenosyltransferase I/III Deficiency: Novel Mutationsand Clinical VariationsAmerican Journal of Human Genetics, 2000
- Dominant inheritance of isolated hypermethioninemia is associated with a mutation in the human methionine adenosyltransferase 1A gene.1997
- Demyelination of the brain is associated with methionine adenosyltransferase I/III deficiency.JCI Insight, 1996
- Diagnosis of Inborn Errors of Metabolism from Blood Spots by Acylcarnitines and Amino Acids Profiling Using Automated Electrospray Tandem Mass SpectrometryPediatric Research, 1995