Hahn Andreas, Neubauer Bernd A
Abteilung Neuropädiatrie und Sozialpädiatrie, Zentrum Kinderheilkunde, Justus-Liebig-Universität, Giessen.
Z Kinder Jugendpsychiatr Psychother. 2005 Oct;33(4):259-71. doi: 10.1024/1422-4917.33.4.259.
The causes of autism are heterogeneous and predominantly genetically determined. An exact aetiology is found in less than 10% of affected patients. The disappointment about low rates of success in identifying a definite pathology, numerous reports about the association of autism and "metabolic derangements", and rumours of "miraculous cures" after application of various drugs and dietary regimes have resulted in substantial confusion about meaningful diagnostic procedures and rational therapies for subjects with autism. The aim of this report is to give an overview about rare, genetically determined neurometabolic disorders (inborn errors of metabolism) that are evidently (e.g. Smith-Lemli-Opitz Syndrome) or allegedly (e.g. succinate semialdehyde dehydrogenase deficiency) associated with autism-specific symptoms. Affected patients usually display additional neurological symptoms. Procedures required to establish the diagnosis and eventual therapeutic consequences derived from a specific metabolic defect are presented. In addition to these well-defined neurometabolic disorders for which there are rational therapeutic strategies, hypotheses about the association of autism with "metabolic derangements" that could not be confirmed or were clearly falsified are discussed.
自闭症的病因多种多样，主要由基因决定。不到10%的自闭症患者能找到确切病因。由于确定明确病理的成功率较低，大量关于自闭症与“代谢紊乱”关联的报告，以及各种药物和饮食疗法应用后“神奇治愈”的传闻，导致人们对自闭症患者有意义的诊断程序和合理治疗方法产生了极大困惑。本报告旨在概述罕见的、由基因决定的神经代谢紊乱（先天性代谢缺陷），这些紊乱明显（如史密斯-勒米-奥皮茨综合征）或据称（如琥珀酸半醛脱氢酶缺乏症）与自闭症特异性症状相关。受影响的患者通常还表现出其他神经症状。文中介绍了确诊所需的程序以及由特定代谢缺陷得出的最终治疗结果。除了这些有合理治疗策略的明确神经代谢紊乱，还讨论了关于自闭症与无法得到证实或已被明确证伪的“代谢紊乱”之间关联的假说。
