Nonketotic hyperglycinemia: A case report and brief review

BioMedicine - Tập 2 - Trang 80-82 - 2012
Yu-Tzu Chang1, Wei-De Lin2,3, Zheng-Nan Chin1, Chung-Shing Wang1, I.-Ching Chou1,4, Huang-Tsung Kuo1, Fuu-Jen Tsai1,2
1Departments of Pediatrics, Children's Medical Center, China Medical University Hospital, Taichung, Taiwan
2Department of Medical Research, China Medical University and Hospital, Taichung, Taiwan
3School of Post Baccalaureate Chinese Medicine, China Medical University, Taichung, Taiwan
4Graduate Institute of Integrated Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan

Tài liệu tham khảo

Tada, 1969, Hyperglycinemia: a defect in glycine cleavage reaction, Tohoku J Exp Med, 98, 289, 10.1620/tjem.98.289 Hoover-Fong, 2004, Natural history of nonketotic hyperglycinemia in 65 patients, Neurology, 63, 847, 10.1212/01.WNL.0000144270.83080.29 Volpe, 2008 Aliefendioğlu, 2003, Transient nonketotic hyperglycinemia: two case reports and literature review, Pediatr Neurol, 28, 151, 10.1016/S0887-8994(02)00501-5 Applegarth, 2000, Incidence of inborn errors of metabolism in British Columbia, 1969-1996, Pediatrics, 105, 10, 10.1542/peds.105.1.e10 Ichinohe, 2004, Glycine cleavage system in neurogenic regions, Eur J Neurosci, 19, 2365, 10.1111/j.0953-816X.2004.03345.x Toone, 2000, Biochemical and molecular investigations of patients with nonketotic hyperglycinemia, Mol Genet Metab, 70, 116, 10.1006/mgme.2000.3000 Applegarth, 2001, Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis, Mol Genet Metab, 74, 139, 10.1006/mgme.2001.3224 Tada, 1993, Non-ketotic hyperglycinaemia: molecular lesion, diagnosis and pathophysiology, J Inherit Metab Dis, 16, 691, 10.1007/BF00711901 Dinopoulos, 2005, Atypical variants of nonketotic hyperglycinemia, Mol Genet Metab, 86, 61, 10.1016/j.ymgme.2005.07.016 Demirel, 2008, Neonatal non-ketotic hyperglycinemia: report of five cases, Pediatr Int, 50, 121, 10.1111/j.1442-200X.2007.02513.x Kure, 2006, Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia, Hum Mutat, 27, 343, 10.1002/humu.20293 Kure, 2006, Rapid diagnosis of glycine encephalopathy by 13C-glycine breath test, Ann Neurol, 59, 862, 10.1002/ana.20853 Suzuki, 2010, Nonketotic hyperglycinemia: proposal of a diagnostic and treatment strategy, Pediatr Neurol, 43, 221, 10.1016/j.pediatrneurol.2010.04.018 Kikuchi, 2008, Glycine cleavage system: reaction mechanism, physiological significance, and hyperglycinemia, Proc Jpn Acad Ser B Phys Biol Sci, 84, 246, 10.2183/pjab.84.246 Mourmans, 2006, Sequential MR imaging changes in nonketotic hyperglycinemia, AJNR Am J Neuroradiol, 27, 208 Van Hove, 2000, Acute hydrocephalus in nonketotic hyperglycemia, Neurology, 54, 754, 10.1212/WNL.54.3.754 Viola, 2002, Magnetic resonance spectroscopy study of glycine pathways in nonketotic hyperglycinemia, Pediatr Res, 52, 292, 10.1203/00006450-200208000-00024 Van Hove, 2005, Benzoate treatment and the glycine index in nonketotic hyperglycinaemia, J Inherit Metab Dis, 28, 651, 10.1007/s10545-005-0033-x Morrison, 2006, Valproate-induced chorea and encephalopathy in atypical nonketotic hyperglycinemia, Pediatr Neurol, 35, 356, 10.1016/j.pediatrneurol.2006.06.009 Hall, 2004, Adult nonketotic hyperglycinemia (NKH) crisis presenting as severe chorea and encephalopathy, Mov Disord, 19, 485, 10.1002/mds.10681