Nesrin ŞENBİL, Mahya Sultan TOSUN, Fatih Süheyl EZGÜ, Yahya Kemal Yavuz GÜRER

İzole sülfit oksidaz eksikliği Olgu Sunumu

Anahtar Kelimeler:

dirençli nöbet, serum ürik asit, sülfit oksidaz

Isolated sulfite oxidase deficiency Case Report

Keywords:

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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.