Maple Syrup Urine Disease Complicated with Kyphoscoliosis and Myelopathy

Chuang, 2001, Maple syrup urine disease (branched-chain ketoaciduria), 1971 Niu, 2010, Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan, J Inherit Metab Dis, 33, S295, 10.1007/s10545-010-9129-z DiGeorge, 1982, Prospective study of maple-syrup-urine disease for the first four days of life, New Engl J Med, 307, 1492, 10.1056/NEJM198212093072405 Simon, 2006, Maple syrup urine disease: favourable effect of early diagnosis by newborn screening on the neonatal course of the disease, J Inherit Metab Dis, 29, 532, 10.1007/s10545-006-0315-y Barschak, 2007, Erythrocyte glutathione peroxidase activity and plasma selenium concentration are reduced in maple syrup urine disease patients during treatment, Int J Dev Neurosci, 25, 335, 10.1016/j.ijdevneu.2007.05.004 Strauss, 2010, Classical maple syrup urine disease and brain development: principles of management and formula design, Mol Genet Metab, 99, 333, 10.1016/j.ymgme.2009.12.007 De Raeve, 1994, Acrodermatitis enteropathica-like cutaneous lesions in organic aciduria, J Pediatr, 124, 416, 10.1016/S0022-3476(94)70364-7 Hilliges, 1993, Intellectual performance of children with maple syrup urine disease, Eur J Pediatr, 152, 144, 10.1007/BF02072492 Davidson, 1982, Cerebral palsy associated with maple syrup urine disease, J Pediatr Orthop, 2, 165, 10.1097/01241398-198202020-00008 Parmar, 2004, Maple syrup urine disease: diffusion-weighted and diffusion-tensor magnetic resonance imaging findings, J Comput Assist Tomogr, 28, 93, 10.1097/00004728-200401000-00015 Patay, 2005, Diffusion-weighted MR imaging in leukodystrophies, Eur Radiol, 15, 2284, 10.1007/s00330-005-2846-2 Herndon, 1984, Scoliosis and maple syrup urine disease, J Pediatr Orthop, 4, 126, 10.1097/01241398-198401000-00027 Henneke, 2003, Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease, Hum Mutat, 22, 417, 10.1002/humu.9187 Nellis, 2003, Relationship of causative genetic mutations in maple syrup urine disease with their clinical expression, Mol Genet Metab, 80, 189, 10.1016/S1096-7192(03)00144-6 Chi, 2003, Maple syrup urine disease in the Austronesian aboriginal tribe Paiwan of Taiwan: a novel DBT (E2) gene 4.7 kb founder deletion caused by a nonhomologous recombination between LINE-1 and Alu and the carrier-frequency determination, Eur J Hum Genet, 11, 931, 10.1038/sj.ejhg.5201069