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Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment.
Kripps, Kimberly A; Sremba, Leighann; Larson, Austin A; Van Hove, Johan L K; Nguyen, Hoanh; Wright, Erica L; Mirsky, David M; Watkins, David; Rosenblatt, David S; Ketteridge, David; Berry, Susan A; McCandless, Shawn E; Baker, Peter R.
Afiliação
  • Kripps KA; Section of Genetics and Metabolism, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
  • Sremba L; Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon, USA.
  • Larson AA; Section of Genetics and Metabolism, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
  • Van Hove JLK; Section of Genetics and Metabolism, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
  • Nguyen H; Section of Genetics and Metabolism, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
  • Wright EL; Section of Genetics and Metabolism, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
  • Mirsky DM; Section of Genetics and Metabolism, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
  • Watkins D; Department of Radiology, University of Colorado, and Children's Hospital Colorado, Aurora, Colorado, USA.
  • Rosenblatt DS; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
  • Ketteridge D; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
  • Berry SA; Department of Genetics and Molecular Pathology, Women's and Children's Hospital, Adelaide, South Australia, Australia.
  • McCandless SE; Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, Minnesota, USA.
  • Baker PR; Section of Genetics and Metabolism, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
J Inherit Metab Dis ; 45(2): 157-168, 2022 03.
Article em En | MEDLINE | ID: mdl-34625984
Methionine synthase deficiency (cblG complementation group) is a rare inborn error of metabolism affecting the homocysteine re-methylation pathway. It leads to a biochemical phenotype of hyperhomocysteinemia and hypomethioninemia. The clinical presentation of cblG is variable, ranging from seizures, encephalopathy, macrocytic anemia, hypotonia, and feeding difficulties in the neonatal period to onset of psychiatric symptoms or acute neurologic changes in adolescence or adulthood. Given the variable and nonspecific symptoms seen in cblG, the diagnosis of affected patients is often delayed. Medical management of cblG includes the use of hydroxocobalamin, betaine, folinic acid, and in some cases methionine supplementation. Treatment has been shown to lead to improvement in the biochemical profile of affected patients, with lowering of total homocysteine levels and increasing methionine levels. However, the published literature contains differing conclusions on whether treatment is effective in changing the natural history of the disease. Herein, we present five patients with cblG who have shown substantial clinical benefit from treatment with objective improvement in their neurologic outcomes. We demonstrate more favorable outcomes in our patients who were treated early in life, especially those who were treated before neurologic symptoms manifested. Given improved outcomes from treatment of presymptomatic patients, cblG warrants inclusion in newborn screening.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Vitamina B 12 / Metionina Tipo de estudo: Diagnostic_studies / Screening_studies Limite: Adult / Humans Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Vitamina B 12 / Metionina Tipo de estudo: Diagnostic_studies / Screening_studies Limite: Adult / Humans Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2022 Tipo de documento: Article