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Sulfite oxidase deficiency. Biochemical and clinical investigations of a hereditary metabolic disorder in sulfur metabolism.

Abstract
Study of a 4 1/2-year-old boy with the unusual combination of acute infantile hemiplegia, ectopia lentis and the absence of homocystinuria showed large amounts of abnormal sulfur-containing metabolites (sulfite, thiosulfate and S-sulfocysteine) in the urine. Sulfite and S-sulfocysteine were also present in the plasma. His inorganic sulfate excretion was only 50 per cent of total sulfur, as compared with 75 to 95 per cent by controls. Loading with L-cysteine hydrochloride and L-methionine further increased the excretion of sulfite and thiosulfate, but not inorganic sulfate excretion. Sulfite oxidase activity in skin fibroblasts average 1.07 nmol of cytochrome d reduced per milligram of protein per minute in control lines; it was not detectable (less than 5 per cent) in the patient. Activity was reduced in both parents (0.50 in the father and 0.32 in the mother)--compatible with autosomal recessive inheritance. Good biochemical responses to a low sulfur amino acid diet suggest that early treatment may benefit the patient.
AuthorsV E Shih, I F Abroms, J L Johnson, M Carney, R Mandell, R M Robb, J P Cloherty, K V Rajagopalan
JournalThe New England journal of medicine (N Engl J Med) Vol. 297 Issue 19 Pg. 1022-8 (Nov 10 1977) ISSN: 0028-4793 [Print] United States
PMID302914 (Publication Type: Case Reports, Journal Article, Research Support, U.S. Gov't, P.H.S.)
Chemical References
  • Amino Acids, Sulfur
  • Sulfites
  • Sulfur
  • Methionine
  • Oxidoreductases
  • Cysteine
Topics
  • Amino Acids, Sulfur (metabolism)
  • Child, Preschool
  • Cysteine
  • Hemiplegia (etiology)
  • Humans
  • Lens Subluxation (etiology)
  • Male
  • Metabolism, Inborn Errors (complications, diet therapy, metabolism)
  • Methionine
  • Oxidoreductases (analysis, deficiency)
  • Sulfites (metabolism)
  • Sulfur (urine)

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