2012
DOI: 10.1007/8904_2011_124
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Methionine Adenosyltransferase I/III Deficiency in Portugal: High Frequency of a Dominantly Inherited Form in a Small Area of Douro High Lands

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 b-synthase an… Show more

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Cited by 30 publications
(31 citation statements)
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“…Family studies of these patients lead to the identification of eight new cases and, as expected, one parent (mother or father) of each patient was also confirmed to be heterozygote for p.R264H mutation. All these individuals were clinically well, except the father of patient 15, who died at a young age with a myocardial infarction (Martins et al 2012). In general, the identified adult patients also had mildly elevated levels of homocysteine and lower levels of methionine, compared with newborns.…”
Section: Resultsmentioning
confidence: 82%
See 1 more Smart Citation
“…Family studies of these patients lead to the identification of eight new cases and, as expected, one parent (mother or father) of each patient was also confirmed to be heterozygote for p.R264H mutation. All these individuals were clinically well, except the father of patient 15, who died at a young age with a myocardial infarction (Martins et al 2012). In general, the identified adult patients also had mildly elevated levels of homocysteine and lower levels of methionine, compared with newborns.…”
Section: Resultsmentioning
confidence: 82%
“…Although usually inherited as an autosomal recessive trait, a dominant form has been reported associated with mutation p.R264H (Chamberlin et al 1997(Chamberlin et al , 2000. This mutation has been reported in several populations (Chamberlin et al 1997;Nagao et al 2013;Chien et al 2005;Chadwick et al 2014) and seems to be very frequent in the Iberian Peninsula (Couce et al 2008(Couce et al , 2013Martins et al 2012). The clinical significance of this condition is not clearly elucidated, raising some issues regarding its inclusion in newborn screening programs.…”
Section: Introductionmentioning
confidence: 97%
“…In the AD type, p.Arg264His is the only reported mutation to date (8)(9)(10), while over 30 mutations have been identified in the AR type (www.hgmd.cf.ac.uk). The AD type has been considered a benign condition, although its long-term prognosis remains unknown (1,4,5,7,11). However, some patients with the AR type may have developmental delay, intellectual disability or brain demyelination (7,(11)(12)(13)(14).…”
Section: Resultsmentioning
confidence: 99%
“…Several papers report their experience in the identification and treatment of these individuals, although the majority of these patients have been found to have the R264H autosomal dominant mutation or known autosomal recessive mutations (Couce et al 2013;Chien et al 2005;Couce et al 2008;Martins et al 2012). In 2013, Couce et al described 18 patients identified in newborn screening programs in Spain with MATI/III deficiency, 15 of which had the R264H mutation.…”
Section: Discussionmentioning
confidence: 99%
“…All cases reported were heterozygotes for the R264H autosomal dominant mutation. All individuals had normal development; however, one patient was found to have myelination abnormalities of unknown clinical significance (Martins et al 2012). Our report is the first that focuses on the trend of methionine levels in individuals with MAT1A mutations other than the common R264H autosomal dominant mutation.…”
Section: Discussionmentioning
confidence: 99%