Neuropediatrics 2002; 33(4): 174-179
DOI: 10.1055/s-2002-34491
Original Article

Georg Thieme Verlag Stuttgart · New York

A Novel Mutation in Neonatal Isolated Sulphite Oxidase Deficiency

H. F. Lee, B. S. C. Mak, C. S. Chi, C. R. Tsai, C. H. Chen, S. G. Shu
  • Department of Pediatrics, Taichung Veterans General Hospital, Taichung, Taiwan
Further Information

Publication History

Received: October 22, 2001

Accepted after Revision: March 25, 2002

Publication Date:
07 October 2002 (online)

Abstract

Isolated sulphite oxidase deficiency (ISOD) is a very rare hereditary metabolic disorder. Imaging findings of the neonatal form of ISOD, including multicystic leukoencephalopathy with brain atrophy, resemble those of severe ischemic changes of the brain. We report the case of a ten-month-old boy who exhibited neonatal seizures on the 24th day after birth. Excessive quantities of sulphite and S-sulphocysteine in the urine and normal blood uric acid were noted. These findings were consistent with those of ISOD. Point mutations were found in two alleles of the sulphite oxidase (SUOX) gene. One of the mutations was a 1029 C > G mutation, which resulted in an amino acid substitution of tyrosine to a stop code (Y343 X); and the other was a 479 G > A mutation, which resulted in an amino acid substitution of arginine to glutamine (R160 Q). Y343 X is a novel SUOX gene mutation. A review of the literature, including data from this report, showed that 3 of 6 cases had typical imaging findings characterized by initial cerebral edema followed by dramatic multicystic leukoencephalopathy. We emphasize that neonatal ISOD should be included in the differential diagnosis of neonates with unexplained hypoxic-ischemic changes on neuroimaging studies.

References

  • 1 Barbot C, Martins E, Vilarinho L, Dorche C, Cardoso M L. A mild form of infantile isolated sulphite oxidase deficiency.  Neuropediatrics. 1995;  26 322-324
  • 2 Brown G K, Scholem R D, Croll H B, Wraith J E, McGill J J. Sulfite oxidase deficiency: clinical, neuroradiologic, and biochemical features in two new patients.  Neurology. 1989;  39 252-257
  • 3 Edwards M C, Johnson J L, Marriage B, Graf T N, Coyne K E, Rajagopalan K V. et al . Isolated sulfite oxidase deficiency: review of two cases in one family.  Ophthalmology. 1999;  106 1957-1961
  • 4 Endres W, Shin Y S, Gunther R, Ibel H, Duran M, Wadman S K. Report on a new patient with combined deficiencies of sulphite oxidase and xanthine dehydrogenase due to molybdenum cofactor deficiency.  Eur J Pediatr. 1998;  148 246-249
  • 5 Garrett R M, Bellissimo D B, Rajagopalan K V. Molecular cloning of human liver sulfite oxidase.  Biochem Biophys Acta. 1995;  1262 147-149
  • 6 Garrett R M, Johnson J L, Graf T N, Feigenbaum A, Rajagopalan K V. Human sulfite oxidase R160 Q: Identification of the mutation in a sulfite oxidase-deficient patient and expression and characterization of the mutant enzyme.  Proc Nat Acad Sci. 1998;  95 6394-6398
  • 7 Hughes E F, Fairbanks L, Simmonds H A, Robinson R O. Molybdenum cofactor deficiency-phenotypic variability in a family with a late-onset variant.  Dev Med Child Neurol. 1998;  40 57-61
  • 8 Irreverre F, Mudd S H, Heizer W D, Laster L. Sulfite oxidase dificiency: studies of a patient with mental retardation, dislocated ocular lenses, and abnormal urinary excretion of S-sulfo-L-cysteine, sulfite, and thiosulfate.  Biochem Med. 1967;  1 187-217
  • 9 Rupar C A, Gillett J, Gordon B A, Ramsay D A, Johnson J L, Garrett R M. et al . Isolated sulfite oxidase deficiency.  Neuropediatrics. 1996;  27 299-304
  • 10 Schuierer G, Kurlemann G, Bick U, Stephani U. Molybdenum-cofactor deficiency: CT and MR findings.  Neuropediatrics. 1995;  26 51-54
  • 11 Slot H MJ, Overweg-Plandsoen W CG, Bakker H D, Abeling N CGM, Tamminga P, Barth P G. et al . Molybdenum-cofactor deficiency: an easily missed cause of neonatal convulsions.  Neuropediatrics. 1993;  24 139-142
  • 12 Tardy P H, Parvy P H, Charpentier C, Bonnefont J P, Saudubray J M, Kamoun P. Attempt at therapy in sulphite oxidase deficiency.  J Inherit Metab Dis. 1989;  12 94-95
  • 13 Touati G, Rusthoven E, Depondt E, Dorche C, Duran M, Heron B. et al . Dietary therapy in two patients with a mild form of sulphite oxidase deficiency. Evidence for clinical and biological improvement.  J Inherit Metab Dis. 2000;  23 45-53
  • 14 Vianey-Liaud D, Desjacques P, Gaulme J, Dorche C, Vanlieferinghen P, Dechelotte P. et al . A new case of isolated sulphite oxidase deficiency with rapid fatal outcome.  J Inherit Metab Dis. 1998;  11 425-426
  • 15 Vilarinho L, Alves J R, Dorche C, Chadefaux B, Parvy P. Citrullinaemia and isolated sulphite oxidase deficiency in two siblings.  J Inherit Metab Dis. 1994;  17 638-639

Dr. Ching-Shiang Chi

Department of Pediatrics, Taichung Veterans General Hospital

160, Sec. 3, Taichung-Kang Road

Taichung, 407

Taiwan, R.O.C.

Email: chi03/6@vghtc.vghtc.gov.tw

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