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Science 23 June 1967:
Vol. 156. no. 3782, pp. 1599 - 1602
DOI: 10.1126/science.156.3782.1599
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Articles

Sulfite Oxidase Deficiency in Man: Demonstration of the Enzymatic Defect

S. Harvey Mudd 1, Filadelfo Irreverre 2, and Leonard Laster 3

1 Laboratory of General and Comparative Biochemistry, National Institute of Mental Health, Bethesda, Maryland
2 Laboratory of Biophysical Chemistry, National Institute of Arthritis and Metabolic Diseases
3 Section on Gastroenterology, Metabolic Disease Branch, National Institute of Arthritis and Metabolic Diseases

An infant who died with neurological abnormalities, mental retardation, and dislocated ocular lenses excreted in his urine abnormally large amounts of S-sulfo-L-cysteine, sulfite, and thiosulfate and virtulally no inorganic sutlfate. The present report establishes the occurrence of an ezymatic defect in this infant. His liver, brain, and kidney specifically lacked sulfite oxidase activity. Deficiency of sulfite oxidase, which has not apparently been described in man, provides a reasonable explanation for the abnormalities in this infant.


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