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1 Hong Jin Lee, M.D., Ph.D. Diseases of inborn errors of metabolism (IEMs) are very rare but the overall prevalence of IEMs is not low, and in the United States, about 5~10% of admitted patients have some genetic predispositions. Clinical manifestations of IEMs are very diverse, but most frequent manifestations are neurological symptoms and signs. IEMs in Korea have been underestimated because of prejudice, underdevelopment of diagnostic tools and ignorance. The Korean Pediatric Society has done a retrospective study in order to know the relative incidence of IEMs in All hospitals with over 100 beds participated in the study. The most frequent disease was Wilson disease (201 cases for 10 years) followed by phenylketonuria (98 cases for 10 years) and Hunters disease (69 cases for 10 years). Disorders of mineral metabolism were the most frequently diagnosed disease groups (252 cases for 10 years) followed by organic acidopathies (220 cases), aminoacidopathies (139 cases), mucopolysaccharidosis (131 cases), disorders of carbohydrate metabolism (84 cases), sphingolipidosis (69 cases), urea cycle disorders (39 cases), peroxisomal disorders (27 cases), porphyrias (16 cases), disorders of purine and pyrimidine metabolism (14 cases), disorders of membrane transport (13 cases), fatty acid oxidation disorders (9 cases), oligosaccharidosis (2 cases), and mucolipidosis (1 case). Clearly, Koreans are not protected from IEMs and a systematic approach is needed to make diagnosis more easy and accurate. J Korean Neurol Assoc 22(1):110, 2004 Key Words: Central nervous system inborn metabolic disorders, Korea 서 론 22권 1호 대한신경과학회지

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4 고 찰 대한신경과학회지 22권 1호

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9 결 론 1. Lee HJ, Moon HR. 17 years experience of inborn errors of metabolism in a hospital in Korea. J Korean Pediatric Society 1990;33: Lyon G, Adams RD, Kolodny EH. Neurology of hereditary metabolic diseases of children. 2nd ed. McGraw-Hill, New York, Baric I, Zschoke J, Christensen E, Duran M, Goodman SI, Leonard JV, et al. Diagnosis and management of glutaric aciduria type I. J Inherit Metab Dis 1998;21: 권 1호 대한신경과학회지

10 4. Kleta R, Skovby F, Christensen E, Rosenberg T, Gahl WA, Anikster Y. 3-Methylglutaconic aciduria type III in a non-iraqi-jewish kindred: clinical and molecular findings. Mol Genet Metab 2002;76: Kelly PJ, Furie KL, Kistler JP, Barron M, Picard EH, Mandell R, et al. Stroke in young patients with hyperhomocysteinemia due to cystathionine beta-synthase deficiency. Neurology 2003;60: Whatley SA, Curti D, Das Gupta F, Ferrier IN, Jones S, Taylor C, et al. Superoxide, neuroleptics and the ubiquinone and cytochrome b5 reductases in brain and lymphocytes from normals and schizophrenic patients. Mol Psychiatry 1998;3: Kossoff EH, Keswani SC, Raymond GV. L-2-hydroxyglutaric aciduria presenting as migraine. Neurology 2001;57: Ichinose H, Inagaki H, Suzuki T, Ohye T, Nagatsu T. Molecular mechanisms of hereditary progressive dystonia with marked diurnal fluctuation, Segawa's disease. Brain Dev 2000(Suppl 1): Campdelacreu J, Munoz E, Gomez B, Pujol T, Chabas A, Tolosa E. Generalised dystonia with an abnormal magnetic resonance imaging signal in the basal ganglia: a case of adult-onset GM1 gangliosidosis. Mov Disord 2002;17: Geiderman JM. Hallervorden and history. N Engl J Med 2003;348: Barth PG, Gootjes J, Bode H, Vreken P, Majoie CB, Wanders RJ. Late onset white matter disease in peroxisome biogenesis disorder. Neurology 2001;57: Myerowitz R, Lawson D, Mizukami H, Mi Y, Tifft CJ, Proia RL. Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling. Hum Mol Genet 2002;11: Enns GM, Steiner RD, Buist N, Cowan C, Leppig KA, McCracken MF, et al. Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins. J Pediatr 2002;141: De Meirleir L. Defects of pyruvate metabolism and the Krebs cycle. J Child Neurol 2002;17(Suppl 3): Yamaguchi S. [Mitochondrial 3-hydroxyacyl-CoA dehydrogenase (SCHAD, LCHAD)]. Nippon Rinsho 2002;60 (Suppl 4): Eaton S, Bursby T, Middleton B, Pourfarzam M, Mills K, Johnson AW, et al. The mitochondrial trifunctional protein: centre of a beta-oxidation metabolon? Biochem Soc Trans 2000;28: Keegan CE, Martin DM, Quint DJ, Gorski JL. Acute extrapyramidal syndrome in mild ornithine transcarbamylase deficiency: metabolic stroke involving the caudate and putamen without metabolic decompensation. Eur J Pediatr 2003;162: Bjelland I, Ueland PM, Vollset SE. Folate and depression. Psychother Psychosom 2003;72: 대한신경과학회지 22권 1호

Lumbar spine

Lumbar spine CT 32 111 DOI : 10.3831/KPI.2010.13.2.111 Lumbar Spine CT 32 Received : 10. 05. 23 Revised : 10. 06. 04 Accepted : 10. 06. 11 Key Words: Disc herniation, CT scan, Clinical analysis The Clinical