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Disorders of Sulfur Amino Acid Metabolism

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Book cover Inborn Metabolic Diseases

Abstract

Several defects can exist in the conversion of the sulfur-containing amino acid methionine to cysteine and the ultimate oxidation of cysteine to inorganic sulfate (Fig. 18.1). Cystathionine-β-synthase (CBS) deficiency is the most important. It is associated with severe abnormalities of four organs or organ systems: the eye (dislocation of the lens), the skeleton (dolichostenomelia and arachnodactyly), the vascular system (thromboembolism), and the central nervous system (mental retardation, cerebrovascular accidents). A low-methionine, highcystine diet, pyridoxine, folate, and betaine in various combinations, and antithrombotic treatment may halt the otherwise unfavorable course of the disease. Methionine adenosyltransferase deficiency and γ-cystathionase deficiency usually do not require treatment. Isolated sulfite oxidase deficiency leads (in its severe form) to refractory convulsions, lens dislocation, and early death. No effective treatment exists.

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Authors
  1. Generoso Andria
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  2. Brian Fowler
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  3. Gianfranco Sebastio
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Editor information

Editors and Affiliations

  1. Veldweg 87, 8051 NP, Hattem, The Netherlands

    John Fernandes (Professor Emeritus of Pediatrics) (Professor Emeritus of Pediatrics)

  2. Hospital Necker-Enfants Malades, 149 Rue de Sevres, 75743, Paris Cedex 15, France

    Jean-Marie Saudubray

  3. Institute of Cellular Pathology, Université Catholique de Louvain, Avenue Hippocrate 75, 1200, Brussels, Belgium

    Georges Van den Berghe (Christian de Duve) (Christian de Duve)

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© 2000 Springer-Verlag Berlin Heidelberg

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Andria, G., Fowler, B., Sebastio, G. (2000). Disorders of Sulfur Amino Acid Metabolism. In: Fernandes, J., Saudubray, JM., Van den Berghe, G. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-04285-4_18

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  • DOI: https://doi.org/10.1007/978-3-662-04285-4_18

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-04287-8

  • Online ISBN: 978-3-662-04285-4

  • eBook Packages: Springer Book Archive

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