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Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening.
Wong, Derek; Tortorelli, Silvia; Bishop, Lisa; Sellars, Elizabeth A; Schimmenti, Lisa A; Gallant, Natalie; Prada, Carlos E; Hopkin, Robert J; Leslie, Nancy D; Berry, Susan A; Rosenblatt, David S; Fair, Amy L; Matern, Dietrich; Raymond, Kimiyo; Oglesbee, Devin; Rinaldo, Piero; Gavrilov, Dimitar.
Affiliation
  • Wong D; Department of Pediatrics, Division of Medical Genetics, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.
  • Tortorelli S; Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, Minnesota, USA.
  • Bishop L; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Sellars EA; Department of Pediatrics, Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.
  • Schimmenti LA; Department of Pediatrics, Division of Genetics and Metabolism, Institute of Human Genetics, University of Minnesota, Minneapolis, Minnesota, USA.
  • Gallant N; Department of Ophthalmology, Division of Genetics and Metabolism, Institute of Human Genetics, University of Minnesota, Minneapolis, Minnesota, USA.
  • Prada CE; Department of Genetics, Cell Biology and Development, Division of Genetics and Metabolism, Institute of Human Genetics, University of Minnesota, Minneapolis, Minnesota, USA.
  • Hopkin RJ; Department of Pediatrics, Division of Medical Genetics, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.
  • Leslie ND; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
  • Berry SA; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
  • Rosenblatt DS; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
  • Fair AL; Department of Pediatrics, Division of Genetics and Metabolism, Institute of Human Genetics, University of Minnesota, Minneapolis, Minnesota, USA.
  • Matern D; Department of Ophthalmology, Division of Genetics and Metabolism, Institute of Human Genetics, University of Minnesota, Minneapolis, Minnesota, USA.
  • Raymond K; Department of Genetics, Cell Biology and Development, Division of Genetics and Metabolism, Institute of Human Genetics, University of Minnesota, Minneapolis, Minnesota, USA.
  • Oglesbee D; Department of Human Genetics, McGill University and the Research Institute of the McGill University Health Center, Montreal, Quebec, Canada.
  • Rinaldo P; Fairview Elk River Clinic, Elk River, Minnesota, USA.
  • Gavrilov D; Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, Minnesota, USA.
Genet Med ; 18(2): 162-7, 2016 Feb.
Article in En | MEDLINE | ID: mdl-25856670
PURPOSE: We evaluated the clinical outcome in homocysteine remethylation disorders following newborn screening (NBS) and initiation of early specific treatment. METHODS: Five patients with remethylation disorders were included in this study. RESULTS: Two asymptomatic patients (one with cblG and one with cblE) were identified by NBS using an approach that combines a postanalytical interpretive tool (available on the Region 4 Stork (R4S) collaborative project website, http://www.clir-r4s.org) and a second-tier test for total homocysteine determination. Both the initial screening and the second-tier test are performed on the same blood spot, with no additional patient contact, resulting in no false-positive outcomes. Two additional patients with methylenetetrahydrofolate reductase deficiency were detected by NBS using low methionine as a marker. Although already symptomatic despite the early diagnosis, the latter two patients greatly improved with treatment and their outcomes are compared with that of another patient with methylenetetrahydrofolate reductase deficiency and significant morbidity who was diagnosed clinically at 3 months of age. CONCLUSION: Early detection by NBS and timely and specific treatment considerably improve at least short-term outcomes of homocysteine remethylation disorders. When a remethylation disorder is suspected, group-specific treatment could be started prior to the completion of in vitro confirmatory testing because all disorders from this group require similar intervention.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neonatal Screening / Amino Acid Metabolism, Inborn Errors / Homocysteine Type of study: Diagnostic_studies / Prognostic_studies / Screening_studies Limits: Female / Humans / Male / Newborn Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2016 Type: Article Affiliation country: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neonatal Screening / Amino Acid Metabolism, Inborn Errors / Homocysteine Type of study: Diagnostic_studies / Prognostic_studies / Screening_studies Limits: Female / Humans / Male / Newborn Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2016 Type: Article Affiliation country: United States