Disorders of Sulfur Amino Acid Metabolism

  • Generoso Andria
  • Brian Fowler
  • Gianfranco Sebastio


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.


Sulfite Oxidase Methionine Adenosyltransferase Methionine Concentration Lens Dislocation Sulfur Amino Acid Metabolism 
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© Springer-Verlag Berlin Heidelberg 2000

Authors and Affiliations

  • Generoso Andria
  • Brian Fowler
  • Gianfranco Sebastio

There are no affiliations available

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