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Article: Functional deficiencies of sulfite oxidase: Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia

TitleFunctional deficiencies of sulfite oxidase: Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia
Authors
KeywordsHomocysteine
Hypoxanthine
Hypoxic-ischemic injury
Molybdenum
Seizures
Sulfite
Sulfocysteine
Uric acid
Xanthine
Issue Date2010
PublisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/braindev
Citation
Brain And Development, 2010, v. 32 n. 7, p. 544-549 How to Cite?
AbstractSulfite oxidase is a mitochondrial enzyme encoded by the SUOX gene and essential for the detoxification of sulfite which results mainly from the catabolism of sulfur-containing amino acids. Decreased activity of this enzyme can either be due to mutations in the SUOX gene or secondary to defects in the synthesis of its cofactor, the molybdenum cofactor. Defects in the synthesis of the molybdenum cofactor are caused by mutations in one of the genes MOCS1, MOCS2, MOCS3 and GEPH and result in combined deficiencies of the enzymes sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase. Although present in many ethnic groups, isolated sulfite oxidase deficiency and molybdenum cofactor deficiency are rare inborn errors of metabolism, which makes awareness of key clinical and laboratory features of affected individuals crucial for early diagnosis. We report clinical, radiologic, biochemical and genetic data on a Brazilian and on a Turkish child with sulfite oxidase deficiency due to the isolated defect and impaired synthesis of the molybdenum cofactor, respectively. Both patients presented with early onset seizures and neurological deterioration. They showed no sulfite oxidase activity in fibroblasts and were homozygous for the mutations c.1136A>G in the SUOX gene and c.667insCGA in the MOCS1 gene, respectively. Widely available routine laboratory tests such as assessment of total homocysteine and uric acid are indicated in children with a clinical presentation resembling that of hypoxic ischemic encephalopathy and may help in obtaining a tentative diagnosis locally, which requires confirmation by specialized laboratories. © 2009.
Persistent Identifierhttp://hdl.handle.net/10722/129523
ISSN
2023 Impact Factor: 1.4
2023 SCImago Journal Rankings: 0.498
ISI Accession Number ID
Funding AgencyGrant Number
Jurgen Manchot Stiftung (Dusseldorf, Germany)
Funding Information:

Financial support by the Jurgen Manchot Stiftung (Dusseldorf, Germany) is gratefully acknowledged.

References

 

DC FieldValueLanguage
dc.contributor.authorSass, JOen_HK
dc.contributor.authorGunduz, Aen_HK
dc.contributor.authorAraujo Rodrigues Funayama, Cen_HK
dc.contributor.authorKorkmaz, Ben_HK
dc.contributor.authorDantas Pinto, KGen_HK
dc.contributor.authorTuysuz, Ben_HK
dc.contributor.authorYanasse Dos Santos, Len_HK
dc.contributor.authorTaskiran, Een_HK
dc.contributor.authorde Fátima Turcato, Men_HK
dc.contributor.authorLam, CWen_HK
dc.contributor.authorReiss, Jen_HK
dc.contributor.authorWalter, Men_HK
dc.contributor.authorYalcinkaya, Cen_HK
dc.contributor.authorCamelo Junior, JSen_HK
dc.date.accessioned2010-12-23T08:38:25Z-
dc.date.available2010-12-23T08:38:25Z-
dc.date.issued2010en_HK
dc.identifier.citationBrain And Development, 2010, v. 32 n. 7, p. 544-549en_HK
dc.identifier.issn0387-7604en_HK
dc.identifier.urihttp://hdl.handle.net/10722/129523-
dc.description.abstractSulfite oxidase is a mitochondrial enzyme encoded by the SUOX gene and essential for the detoxification of sulfite which results mainly from the catabolism of sulfur-containing amino acids. Decreased activity of this enzyme can either be due to mutations in the SUOX gene or secondary to defects in the synthesis of its cofactor, the molybdenum cofactor. Defects in the synthesis of the molybdenum cofactor are caused by mutations in one of the genes MOCS1, MOCS2, MOCS3 and GEPH and result in combined deficiencies of the enzymes sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase. Although present in many ethnic groups, isolated sulfite oxidase deficiency and molybdenum cofactor deficiency are rare inborn errors of metabolism, which makes awareness of key clinical and laboratory features of affected individuals crucial for early diagnosis. We report clinical, radiologic, biochemical and genetic data on a Brazilian and on a Turkish child with sulfite oxidase deficiency due to the isolated defect and impaired synthesis of the molybdenum cofactor, respectively. Both patients presented with early onset seizures and neurological deterioration. They showed no sulfite oxidase activity in fibroblasts and were homozygous for the mutations c.1136A>G in the SUOX gene and c.667insCGA in the MOCS1 gene, respectively. Widely available routine laboratory tests such as assessment of total homocysteine and uric acid are indicated in children with a clinical presentation resembling that of hypoxic ischemic encephalopathy and may help in obtaining a tentative diagnosis locally, which requires confirmation by specialized laboratories. © 2009.en_HK
dc.languageengen_US
dc.publisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/braindeven_HK
dc.relation.ispartofBrain and Developmenten_HK
dc.subjectHomocysteine-
dc.subjectHypoxanthine-
dc.subjectHypoxic-ischemic injury-
dc.subjectMolybdenum-
dc.subjectSeizures-
dc.subjectSulfite-
dc.subjectSulfocysteine-
dc.subjectUric acid-
dc.subjectXanthine-
dc.subject.meshAmino Acid Metabolism, Inborn Errors - complications - geneticsen_HK
dc.subject.meshBrazilen_HK
dc.subject.meshCoenzymes - deficiency - geneticsen_HK
dc.subject.meshDNA Mutational Analysisen_HK
dc.subject.meshDiagnosis, Differentialen_HK
dc.subject.meshEncephalomalacia - enzymology - etiology - genetics - pathologyen_HK
dc.subject.meshFemaleen_HK
dc.subject.meshHumansen_HK
dc.subject.meshInfant, Newbornen_HK
dc.subject.meshInfant, Newborn, Diseases - enzymology - etiology - genetics - pathologyen_HK
dc.subject.meshMetalloproteins - deficiency - geneticsen_HK
dc.subject.meshPteridinesen_HK
dc.subject.meshSeizures - complications - etiologyen_HK
dc.subject.meshSulfite Oxidase - deficiency - geneticsen_HK
dc.subject.meshTurkeyen_HK
dc.titleFunctional deficiencies of sulfite oxidase: Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalaciaen_HK
dc.typeArticleen_HK
dc.identifier.emailLam, CW:ching-wanlam@pathology.hku.hken_HK
dc.identifier.authorityLam, CW=rp00260en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1016/j.braindev.2009.09.005en_HK
dc.identifier.pmid19793632-
dc.identifier.scopuseid_2-s2.0-77954384973en_HK
dc.identifier.hkuros176799en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-77954384973&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume32en_HK
dc.identifier.issue7en_HK
dc.identifier.spage544en_HK
dc.identifier.epage549en_HK
dc.identifier.isiWOS:000280419900005-
dc.publisher.placeNetherlandsen_HK
dc.identifier.issnl0387-7604-

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