lunes, 9 de septiembre de 2013

Clinical and metabolic findings in patients ... [Mol Genet Metab. 2013] - PubMed - NCBI

Clinical and metabolic findings in patients ... [Mol Genet Metab. 2013] - PubMed - NCBI

Mol Genet Metab. 2013 Aug 14. pii: S1096-7192(13)00271-0. doi: 10.1016/j.ymgme.2013.08.003. [Epub ahead of print]

Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening.


Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Pediatrics, Hospital Clínico Universitario de Santiago de Compostela, A Choupana, s/n, 15706 Santiago de Compostela, A Coruña, Spain. Electronic address:


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 NBS and follow-up for 18 patients included methionine and total homocysteine levels, clinical presentation parameters, genotypes, and development quotients. The birth prevalence was 1:1:22,874. At detection 16 of the 18 patients exhibited elevations of plasma methionine above 60μmol/L (mean 99.9±38μmol/L) and the mean value in confirmation tests was 301μmol/L (91-899) μmol/L. All patients were asymptomatic. In four patients with more markedly elevated plasma methionines (>450μmol/L) total homocysteine values were slightly elevated (about 20μmol/L). The average follow-up period was 3years 7months (range: 2-123months). Most patients (83%) were heterozygous for the autosomal dominant Arg264His mutation and, with one exception, presented relatively low circulating methionine concentrations (<400 400="" a="" above="" additional="" and="" arg199cys="" arg264his="" as="" asymptomatic="" available="" been="" condition="" confirmatory="" continued="" currently="" date="" due="" during="" evidence="" follow-up="" for="" have="" heterozygous="" hypermethioninemia="" identified="" in="" interventions="" is="" leu355arg="" mat1a="" mean="" methionines="" mild="" mutation="" mutations="" necessary.="" no="" novel="" p="" patients="" plasma="" shows="" such="" that="" the="" therapeutic="" therefore="" thr288ala.="" to="" treatment="" utilized.="" were="" which="" with="">© 2013.


AdoMet/SAM, DQs, Developmental quotients, Homocysteine, MAT, MSCA, McCarthy Scales of Children's Abilities, Methionine adenosyltransferase, NBS, Newborn screening, Persistent hypermethioninemia, S-adenosylmethionine, WISC, Wechsler intelligence scale for children, newborn screening, tHcy, total homocysteine
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