Remethylation defects: guidelines for clinical diagnosis and treatment View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1998-03

AUTHORS

H. Ogier de Baulny, M. Gérard, J. M. Saudubray, J. Zittoun

ABSTRACT

The main remethylation defects include disorders which all have defective methionine synthesis in common. Methylenetetrahydrofolate reductase deficiency impairs methyltetrahydrofolate synthesis, defects in cytosolic reduction of hydroxocobalamin (CblC/D) impair the synthesis of both methyl- and adenosyl cobalamin and deficiencies of methionine synthase (CblE/G) are associated with defective methyl cobalamin synthesis. The clinical presentation is characterized by acute neurological distress in early infancy. In childhood, patients present with progressive encephalopathy with an end-stage which has many signs in common with the adult onset form. In fact, both have more or less severe signs of subacute degeneration of the cord. Cobalamin defective patients must be treated with parenteral supplementation of hydroxocobalamin (1-2 mg per dose). Some methylenetetrahydrofolate patients could be folate responsive and must have a high-dosage folate trial. In addition, oral betaine supplementation (2-9 g per day depending on age) appears an effective means to prevent further neurological deterioration. More... »

PAGES

s77-s83

References to SciGraph publications

  • 1983-06. Abnormal cobalamin metabolism in a megaloblastic child with homocystinuria, cystathioninuria and methylmalonic aciduria in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1979. Genetic Aspects of Folate Metabolism in ADVANCES IN HUMAN GENETICS 9
  • 1990-03. Methylmalonic aciduria with homocystinuria: Biochemical studies, treatment, and clinical course of a Cbl-C patient in EUROPEAN JOURNAL OF PEDIATRICS
  • 1992-11. Biochemical diagnosis and outcome of 2 years treatment in a patient with combined methylmalonic aciduria and homocystinuria in EUROPEAN JOURNAL OF PEDIATRICS
  • 1994-06. Homocysteinemia and schizophrenia as a case of methylation deficiency in JOURNAL OF NEURAL TRANSMISSION
  • 1985-12. Comparison of Folic Acid Coenzyme Distribution Patterns in Patients with Methylenetetrahydrofolate Reductase and Methionine Synthetase Deficiencies in PEDIATRIC RESEARCH
  • 1985-06. 5,10-Methylenetetrahydrofolate reductase deficiency. Clinical and biochemical features of a further case in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1994-06. Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification in NATURE GENETICS
  • 1984-06. Betaine in the treatment of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency in EUROPEAN JOURNAL OF PEDIATRICS
  • 1976-06. Morphologic Studies in a Patient with Homocystinuria due to 5,10-Methylenetetrahydrofolate Reductase Deficiency in PEDIATRIC RESEARCH
  • 1994-09. Effect of betaine onS-adenosylmethionine levels in the cerebrospinal fluid in a patient with methylenetetrahydrofolate reductase deficiency and peripheral neuropathy in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1995. Clinical Approach to Inherited Metabolic Diseases in INBORN METABOLIC DISEASES
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/pl00014307

    DOI

    http://dx.doi.org/10.1007/pl00014307

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1015300981

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/9587031


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