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Disorders of Sulfur Amino Acid Metabolism

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Inborn Metabolic Diseases

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Abstract

Several inherited defects are known in the conversion of the sulfur-containing amino acid methionine to cysteine and the ultimate oxidation of cysteine to inorganic sulfate (◘ Fig. 21.1). 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, high-cystine diet, pyridoxine, folate and betaine in various combinations, and antithrombotic treatment may halt the otherwise unfavourable course of the disease. Methionine S-adenosyltransferase deficiency and γ-cystathionase deficiency usually do not require treatment.

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Author information

Authors and Affiliations

  1. Department of Pediatrics, Federico II University, Via Sergio Pansini 5, 80131, Naples, Italy

    Generoso Andria

  2. University Children’s Hospital, Romergasse 8, 4005, Basel, Switzerland

    Brian Fowler

  3. Department of Pediatrics, Federico II University, Via Sergio Pansini 5, 80131, Naples, Italy

    Gianfranco Sebastio

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. Department of Neurology Neurometabolic Unit, Hôpital Pitié Salpêtrière 47–83 Boulevard de l’Hôpital, Paris Cedex 13, 75651, Paris, France

    Jean-Marie Saudubray

  2. Laboratory of Physiological Chemistry de Duve Institute, University of Louvain Medical School, Avenue Hippocrate 75/39, 1200, Brussels, Belgium

    Georges van den Berghe

  3. Biochemical Genetics Unit Manchester Academic Health Science Centre, Central Manchester University Hospitals St Mary’s Hospital, Oxford Road, M13 9WL, Manchester, UK

    John H. Walter

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© 2012 Springer-Verlag Berlin Heidelberg

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Andria, G., Fowler, B., Sebastio, G. (2012). Disorders of Sulfur Amino Acid Metabolism. In: Saudubray, JM., van den Berghe, G., Walter, J.H. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-15720-2_21

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  • DOI: https://doi.org/10.1007/978-3-642-15720-2_21

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-15719-6

  • Online ISBN: 978-3-642-15720-2

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