Isolated sulphite oxidase deficiency mimics the features of hypoxic ischaemic encephalopathy

European Journal of Pediatrics

Volumn 164, Issue 11, 2005, Pages 655-659

  Hobson, Emma E ^a   Thomas, Sumesh ^b   Crofton, Patricia M ^d   Murray, Alison D ^c   Dean, John C S ^c   Lloyd, David ^b  

^a ST MARY S HOSPITAL   (United Kingdom)

^b ABERDEEN MATERNITY HOSPITAL   (United Kingdom)

^c UNIVERSITY OF ABERDEEN   (United Kingdom)

^d ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

Author keywords

Hypoxic ischaemic encephalopathy; Prenatal diagnosis; Seizures; Sulphite oxidase deficiency

Indexed keywords

CYSTEINE DERIVATIVE; SULFITE OXIDASE;

ARTICLE; BRAIN ISCHEMIA; CASE REPORT; CAUSE OF DEATH; CLINICAL FEATURE; ELECTROENCEPHALOGRAM; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; FIBROBLAST CULTURE; HUMAN; INBORN ERROR OF METABOLISM; INFANT; INTRACTABLE EPILEPSY; ISOLATED SULFITE OXIDASE DEFICIENCY; MALE; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; RECURRENT DISEASE; RISK FACTOR; SEIZURE; SEPTICEMIA;

BRAIN; BRAIN DISEASES, METABOLIC, INBORN; CYSTEINE; DIAGNOSIS, DIFFERENTIAL; FATAL OUTCOME; FEMALE; HUMANS; HYPOXIA-ISCHEMIA, BRAIN; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; METABOLISM, INBORN ERRORS; MUSCLE HYPOTONIA; SEIZURES; SIBLINGS; SULFITE OXIDASE;

EID: 26944447862     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-005-1729-5     Document Type: Article

References (15)

1. Brown GK, Scholem RD, Croll HB, Wraith JE, McGill JJ (1989) Sulfite oxidase deficiency: clinical, neuroradiologic, and biochemical features in two new patients. Neurology 39: 252-257
2. Carragher FM, Kirk JM, Steer C, Allen J, Dorche C (1999) False negative thiosulphate screening test in a case of molybdenum cofactor deficiency. J Inherit Metab Dis 22: 842-843
3. Chan KY, Li CK, Lai CK, Ng SF, Chan AYW (2002) Infantile isolated sulphite oxidase deficiency in a Chinese family: a rare neurodegenerative disorder. Hong Kong Med J 8: 279-282
4. Duran M, Aarsen G, Fokkens RH, Nibbering NM, Cats BP, de Bree PK, Wadman SK (1981) 2-Mercaptoethanesulfonate-cysteine disulfide excretion following the administration of 2-mercaptoethanesulfonate - a pitfall in the diagnosis of sulfite oxidase deficiency. Clin Chim Acta 111: 47-53
5. Edwards MC, Johnson JL, Marriage B, Graf TN, Coyne KE, Rajagopalan KV, MacDonald IM (1999) Isolated sulfite oxidase deficiency - review of two cases in one family. Ophthalmology 106: 1957-1961
6. Johnson JL, Rajagopalan KV, Lanman JT, Schutgens RBH, van Gennip AH, Sorensen P, Applegarth DA (1991) Prenatal diagnosis of molybdenum cofactor deficiency by assay of sulphite oxidase activity in chorionic villus samples. J Inherit Metab Dis 14: 932-937
7. Johnson JL, Rajagopalan KV, Renier WO, Van der Burgt I, Ruitenbeek W (2002) Isolated sulfite oxidase deficiency: mutation analysis and DNA-based prenatal diagnosis. Pren Diagn 22: 422-436
8. Mann G, Kirk JM (1994) Antibiotic interference in urinary thiosulphate measurements. J Inherit Metab Dis 17: 120-121
9. Rabier D, Chadefaux-Vekemans B, Oury JF, Aupetit J, Bardet J, Gasquet M, Merhand E, Parvy P, Kamoun P (1996) Gestational age-related reference values for amniotic fluid amino acids: a useful tool for prenatal diagnosis of amino-acidopathies. Pren Diagn 16: 623-628
10. Reist M, Marshall KA, Jenner P, Halliwell B (1998) Toxic effects of sulphite in combination with peroxynitrite on neuronal cells. J Neurochem 71: 2431-2438
11. Rupar CA, Gillett J, Gordon BA, Ramsay DA, Johnson JL, Garrett RM, Rajagopalan KV, Jung JH, Bacheyie GS, Sellers AR (1996) Isolated sulfite oxidase deficiency. Neuropediatrics 27: 299-304
12. Salman MS, Ackerley C, Senger C, Becker L (2002) New insights into the neuropathogenesis of molybdenum cofactor deficiency. Can J Neurol Sci 29: 91-96
13. Slot HM, Overweg-Plandsoen WCG, Bakker HD, Abeling NG, Tamminga P, Barth PG, Van Gennip AH (1993) Molybdenum-cofactor deficiency: an easily missed cause of neonatal convulsions. Neuropediatrics 24: 139-142
14. Touati G, Rusthoven E, Depondt E, Dorche C, Duran M, Heron B, Rabier D, Russo M, Saudubray JM (2000) Dietary therapy in two patients with a mild form of sulphite oxidase deficiency: evidence for clinical and biological improvement. J Inherit Metab Dis 23: 45-53
15. Van der Klei-van Moorsel JM, Smit LM, Brockstedt M, Jakobs C, Dorche C, Duran M (1991) Infantile isolated sulphite oxidase deficiency: report of a case with negative sulphite test and normal sulphate excretion. Eur J Pediatr 150: 196-197