Isolated sulfite oxidase deficiency Case Report

Yıl 2005, Cilt: 40 Sayı: 2, 105 - 108, 01.06.2005

Nesrin Şenbil Mahya Sultan Tosun Fatih Süheyl Ezgü Yahya Kemal Yavuz Gürer

Anahtar Kelimeler

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İzole sülfit oksidaz eksikliği Olgu Sunumu

Anahtar Kelimeler

dirençli nöbet, serum ürik asit, sülfit oksidaz

Kaynakça

• Johnson JL, Wuebbens MM, Mandell R, Shih VE. Molybdenum cofactor deficiency in a patient previously chracterized as deficient in sulfite oxidase. Biochem Med 1998; 40: 86- 93. 11. Etukudo MH, Agbedana EO, Akinyinka OO, Osifo BO. Plasma electrolytes, total cholesterol, liver enzymes, and selected antioxidant status in protein energy malnutrition. Afr J Med Sci 1999; 28: 81- 5.
• Chan KY, Li CK, Lai CK, Ng SF, Chan AYW. Infantile isolated sulphite oxidase deficiency in a Chinese family: a rare neurodege- nerative disorder. Hong Kong Med J 2002; 8: 279- 82.
• Appignani BA, Kaye EM, Wolpert SM. CT and MR appearance of the brain in two children with molybdenum cofactor deficiency. Am J Neuroradiol 1996; 17: 317- 20.
• Topcu M, Coskun T, Haliloglu G, Saatci I. Molybdenum cofactor deficiency: report of three cases presenting as hypoxic-ischemic encephalopaty. J Child Neurol 2001; 16: 264- 70.
• Koch H. Dipsticks and convulsions. Lancet 1998; 352: 1824.
• Coşkun T, Yetük M, Yurdakök M, Tekinalp G. Blood uric acid as a pointer to the diagnosis of molybdenum cofactor deficiency. Acta Paediatr 1998; 87: 714- 5.
• Tauati G, Rusthoven E, Depont E, et al. Dietary therapy in two patients with a mild form sulphite oxidase deficiency. Evidence for clinical and biological improvement. J Inherit Metab Dis 2000; 23: 45- 53.
• Mg salınımı artar ATP azalır Enerji Yetmezliği
• Sami Ulus Çocuk Sağlığı ve Hastalıkları Eğitim ve Araştırma Hastanesi, Çocuk Nörolojisi Bölümü
• Sami Ulus Çocuk Sağlığı ve Hastalıkları Eğitim ve Araştırma Hastanesi
• Gazi Üniversitesi Tıp Fakültesi, Pediatrik Metabolizma Bölümü 1. Rupar CA, Gillet J, Gordon BA et al. Isolated sulfite oxidase deficiency. Neuropediatrics 1996; 27: 299- 304. 2. Ezgü FS, Hasanoğlu A, Tümer L. Molibden kofaktör ve izole sülfit oksidaz eksikliği. T Klin J Pediatr 2001; 10: 113- 7. 3. Salman MS, Ackerley C, Senger C, Becker L. New insights into the neuropathogenesis of molybdenum cofactor deficiency. Can J Neurol Sci 2002; 29: 91- 6. 4.
• Johnson JL, Wuebbens MM, Mandell R, Shih VE. Molybdenum cofactor deficiency in a patient previously chracterized as deficient in sulfite oxidase. Biochem Med 1998; 40: 86- 93.
• Etukudo MH, Agbedana EO, Akinyinka OO, Osifo BO. Plasma electrolytes, total cholesterol, liver enzymes, and selected antioxidant status in protein energy malnutrition. Afr J Med Sci 1999; 28: 81- 5.
• Chan KY, Li CK, Lai CK, Ng SF, Chan AYW. Infantile isolated sulphite oxidase deficiency in a Chinese family: a rare neurodege- nerative disorder. Hong Kong Med J 2002; 8: 279- 82.
• Appignani BA, Kaye EM, Wolpert SM. CT and MR appearance of the brain in two children with molybdenum cofactor deficiency. Am J Neuroradiol 1996; 17: 317- 20.
• Topcu M, Coskun T, Haliloglu G, Saatci I. Molybdenum cofactor deficiency: report of three cases presenting as hypoxic-ischemic encephalopaty. J Child Neurol 2001; 16: 264- 70.
• Koch H. Dipsticks and convulsions. Lancet 1998; 352: 1824.
• Coşkun T, Yetük M, Yurdakök M, Tekinalp G. Blood uric acid as a pointer to the diagnosis of molybdenum cofactor deficiency. Acta Paediatr 1998; 87: 714- 5.
• Tauati G, Rusthoven E, Depont E, et al. Dietary therapy in two patients with a mild form sulphite oxidase deficiency. Evidence for clinical and biological improvement. J Inherit Metab Dis 2000; 23: 45- 53.