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

Brain and Development - Tập 32 Số 7 - Trang 544-549 - 2010
Jörn Oliver Sass1, Ayşegül Gündüz2, Carolina Araújo Rodrigues Funayama3, Barış Korkmaz2, Kylvia Giselle Dantas Pinto3, Beyhan Tüysüz4, Letícia Yanasse Dos Santos3, Emine Taşkıran5, Marlene de Fátima Turcato3, Ching‐Wan Lam6, Jochen Reiss7, Melanie Walter1, Cengiz Yalçınkaya2, José Simon Camelo8
1Labor für Klinische Biochemie und Stoffwechsel, Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Freiburg, Freiburg, Germany
2Department of Neurology, Istanbul University Cerrahpasa Faculty of Medicine, Istanbul, Turkey
3Department of Neurosciences and Behavioral Sciences, Division of Neurology, Faculty of Medicine of Ribeirão Preto, São Paulo University, Ribeirão Preto, SP, Brazil
4Department of Pediatrics, Division of Genetics, Istanbul University Cerrahpasa Faculty of Medicine, Istanbul, Turkey
5Department of Neurology, Istanbul Education and Research Hospital, Istanbul, Turkey
6Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Hong Kong, China
7Institut für Humangenetik der Universität Göttingen, Göttingen, Germany
8Department of Puericulture and Pediatrics, Faculty of Medicine of Ribeirão Preto, São Paulo University, Ribeirão Preto, SP, Brazil

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Johnson JL, Duran M. Molybdenum cofactor deficiency and isolated sulfite oxidase deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. Childs B, Kinzler KW, Vogelstein B, Assoc. editors. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw-Hill; 2001. p. 3163–77.

Schwarz, 2005, Molybdenum cofactor biosynthesis and deficiency, Cell Mol Life Sci, 62, 2792, 10.1007/s00018-005-5269-y

Johnson, 1989, Molybdenum cofactor biosynthesis in humans. Identification of two complementation groups of cofactor-deficient patients and preliminary characterization of a diffusible molybdopterin precursor, J Clin Invest, 83, 897, 10.1172/JCI113974

Johnson, 2002, Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients, Hum Mutat, 20, 74, 10.1002/humu.9038

Leimkühler, 2005, Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase, Hum Genet, 117, 565, 10.1007/s00439-005-1341-9

Ichida, 2006, A Turkish case with molybdenum cofactor deficiency, Nucleosides Nucleotides Nucleic Acids, 25, 1087, 10.1080/15257770600894022

Touati, 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, 10.1023/A:1005646813492

Boles, 1993, Short-term response to dietary therapy in molybdenum cofactor deficiency, Ann Neurol, 34, 742, 10.1002/ana.410340520

Graf, 1998, Ahomocysteinemia in molybdenum cofactor deficiency, Neurology, 51, 860, 10.1212/WNL.51.3.860

Kishikawa, 2002, The peak height ratio of S-sulfonated transthyretin and other oxidized isoforms as a marker for molybdenum cofactor deficiency, measured by electrospray ionization mass spectrometry, Biochim Biophys Acta, 1588, 135, 10.1016/S0925-4439(02)00156-4

Salman, 2002, New insights into the neuropathogenesis of molybdenum cofactor deficiency, Can J Neurol Sci, 29, 91, 10.1017/S0317167100001803

Olney, 1975, Cysteine-S-sulfate: brain damaging metabolite in sulfite oxidase deficiency, J Neuropathol Exp Neurol, 34, 167, 10.1097/00005072-197503000-00005

Zhang, 2004, A mechanism of sulfite neurotoxicity: direct inhibition of glutamate dehydrogenase, J Biol Chem, 279, 43035, 10.1074/jbc.M402759200

Tan, 2005, Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literature, Pediatrics, 116, 757, 10.1542/peds.2004-1897

Hobson, 2005, Isolated sulphite oxidase deficiency mimics the features of hypoxic ischaemic encephalopathy, Eur J Pediatr, 164, 655, 10.1007/s00431-005-1729-5

Hoffmann, 2007, Magnetic resonance imaging and magnetic resonance spectroscopy in isolated sulfite oxidase deficiency, J Child Neurol, 22, 1214, 10.1177/0883073807306260

Eichler, 2006, Proton magnetic resonance spectroscopy and diffusion-weighted imaging in isolated sulfite oxidase deficiency, J Child Neurol, 21, 801, 10.1177/08830738060210090601

n Moorsel, 1991, Infantile isolated sulphite oxidase deficiency: report of a case with negative sulphite test and normal sulphate excretion, Eur J Pediatr, 150, 196, 10.1007/BF01963565

Simmonds, 1999, Diagnosis of molybdenum cofactor deficiency, Lancet, 353, 675, 10.1016/S0140-6736(05)75473-8

Duran, 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, 10.1016/0009-8981(81)90419-8

Sass, 2004, New approaches towards laboratory diagnosis of isolated sulphite oxidase deficiency, Ann Clin Biochem, 41, 157, 10.1258/000456304322880078

Lee, 2002, A novel mutation in neonatal isolated sulphite oxidase deficiency, Neuropediatrics, 33, 174, 10.1055/s-2002-34491

Chan, 2002, Infantile isolated sulphite oxidase deficiency in a Chinese family: a rare neurodegenerative disorder, Hong Kong Med J, 8, 279

Schwarz, 2004, Rescue of lethal molybdenum cofactor deficiency by a biosynthetic precursor from Escherichia coli, Hum Mol Genet, 13, 1249, 10.1093/hmg/ddh136

Schwarz G, Veldman A, Santamaria-Araujo JA, Sollazo S, Pitt J, Yaplito-Lee J, et al. Successful treatment of molybdenum cofactor deficiency type A with cyclic pyranopterin monophosphate (cPMP). In: Abstract & poster, 23rd annual symposium of the Arbeitsgemeinschaft Pädiatrische Stoffwechselstörungen, Fulda, German, March 11– 13, 2009.