Isolated sulfite oxidase deficiency: Review of two cases in one family

Ophthalmology

Volumn 106, Issue 10, 1999, Pages 1957-1961

  Edwards, Marianne C ^a   Johnson, Jean L ^b   Marriage, Barbara ^a   Graf, Tyler N ^b   Coyne, Katharine E ^b   Rajagopalan, K V ^b   MacDonald, Ian M ^a  

^a UNIVERSITY OF ALBERTA   (Canada)

^b DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

OXIDOREDUCTASE;

ALLELE; ARTICLE; CASE REPORT; CELL CULTURE; ENZYMOLOGY; FAMILY; FIBROBLAST; GENETICS; HUMAN; INBORN ERROR OF METABOLISM; LENS SUBLUXATION; MALE; NEUROLOGIC DISEASE; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PEDIGREE; POINT MUTATION; SEIZURE;

ALLELES; CELLS, CULTURED; DNA MUTATIONAL ANALYSIS; FAMILY; FIBROBLASTS; HUMANS; INFANT, NEWBORN; LENS SUBLUXATION; MAGNETIC RESONANCE IMAGING; MALE; METABOLISM, INBORN ERRORS; NERVOUS SYSTEM DISEASES; OXIDOREDUCTASES ACTING ON SULFUR GROUP DONORS; PEDIGREE; POINT MUTATION; SEIZURES;

EID: 0033208858     PISSN: 01616420     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0161-6420(99)90408-6     Document Type: Article

References (22)

1. Irreverre F, Mudd SH, Heizer WD, Laster L. Sulfite oxidase deficiency: studies of a patient with mental retardation, dislocated ocular lenses, and abnormal urinary excretion of S-sulfo-L-cysteine, sulfite, and thiosulfate. Biochemical Medicine 1967;1:187-217.
2. Shih VE, Abroms IF, Johnson JL, et al. Sulfite oxidase deficiency: biochemical and clinical investigations of a hereditary metabolic disorder in sulfur metabolism. N Engl J Med 1977; 297:1022-8.
3. Duran M, Beemer FA, van de Heiden C, et al. Combined deficiency of xanthine oxidase and sulphite oxidase: a defect of molybdenum metabolism or transport? J Inherit Metab Dis 1978;1:175-8.
4. Johnson JL, Waud WR, Rajagopalan KV, et al. Inborn errors of molybdenum metabolism: combined deficiencies of sulfite oxidase and xanthine dehydrogenase in a patient lacking the molybdenum cofactor. Proc Natl Acad Sci U S A 1980;77: 3715-9.
5. Leuder GT, Steiner RD. Ophthalmic abnormalities in molybdenum cofactor deficiency and isolated sulfite oxidase deficiency. J Pediatr Ophthalmol Strabismus 1995;32:334-7.
6. Johnson JL, Wadman SK. Molybdenum cofactor deficiency and isolated sulfite oxidase deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Basis of Inherited Disease, 7th edn. New York: McGraw-Hill 1995;2271-83.
7. Brown GK, Scholem RD, Croll HB, et al. Sulfite oxidase deficiency: clinical, neuroradiologic, and biochemical features in two new patients. Neurology 1989;39 (2 Pt 1):252-7.
8. Streeten BW. Pathology of the lens. In: Albert DM, Jakobiec FA, eds. Principles and Practice of Ophthalmology: Clinical Practice. Vol. 4. Philadelphia: Saunders, 1994;2225.
9. Slot HMJ, Overweg-Plandsoen WCG, Bakker HD, et al. Molybdenum-cofactor deficiency: an easily missed cause of neonatal convulsions. Neuropediatrics 1993;24:139-42.
10. Johnson JL, Rajagopalan KV. An HPLC assay for detection of elevated urinary S-sulphocysteine, a metabolic marker of sulphite oxidase deficiency. J Inherit Metab Dis 1995;18:40-7.
11. Crawhall JC, Itiaba K, Katz S. Separation and quantitation of oxypurines by isocratic high-pressure liquid chromatography: application to xanthinuria and the Lesch-Nyhan syndrome. Biochem Med 1983;30:261-70.
12. Garrett RM, Johnson JL, Graf TN, et al. Human sulfite oxidase R160Q: identification of the mutation in a sulfite oxidase-deficient patient and expression and characterization of the mutant enzyme. Proc Natl Acad Sci U S A 1998;95:6394-8.
13. Kisker C, Schindelin H, Pacheco A, et al. Molecular basis of sulfite oxidase deficiency from the structure of sulfite oxidase. Cell 1997;91:973-83.
14. Garrett RM, Rajagopalan KV. Site-directed mutagenesis of recombinant sulfite oxidase. Identification of cysteine 207 as a ligand of molybdenum. J Biol Chem 1996;271:7387-91.
15. 2. Proc Natl Acad Sci U S A 1973;70:3655-9.
16. Shapiro R. Genetic effects of bisulfite (sulfur dioxide). Mutat Res 1977;39:149-75.
17. Til HP, Feron VJ, De Groot AP. The toxicity of sulphite. I. Long-term feeding and multigeneration studies in rats. Food Cosmet Toxicol 1972;10:291-310.
18. Streeten BW. The nature of the ocular zonule. Trans Am Ophthalmol Soc 1982;80:823-54.
19. Johnson JL, Rajagopalan KV, Lanman JT, et al. Prenatal diagnosis of molybdenum cofactor deficiency by assay of sulfite oxidase activity in chorionic villus samples. J Inherit Metab Dis 1991;14:932-7.
20. Gray RGF, Green A, Basu SN, et al. Antenatal diagnosis of molybdenum cofactor deficiency. Am J Obstet Gynecol 1990; 163 (4 Pt 1):1203-4.
21. Ogier H, Wadman SK, Johnson JL, et al. Antenatal diagnosis of combined xanthine and sulphite oxidase deficiencies. Lancet 1983;2:1363-4.
22. Johnson JL, Duran M. Molybdenum cofactor deficiency and isolated sulfite oxidase deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Vogelstein B, eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill 1999 (in press).