Lerman-Sagie Tally, Leshinsky-Silver Esther, Watemberg Nathan, Lev Dorit
Mitochondrial Disease Clinic, Metabolic Neurogenetic Service, Wolfson Medical Center, Holon, Israel.
J Child Neurol. 2004 May;19(5):379-81. doi: 10.1177/088307380401900510.
Autism is etiologically heterogeneous; medical conditions are implicated in only a minority of cases, whereas metabolic disorders are even less common. Recently, there have been articles describing the association of autism with mitochondrial abnormalities. We critically review the current literature and conclude that mitochondrial disorders are probably a rare and insignificant cause of pure autism; however, evidence is accumulating that both autosomal recessive and maternally inherited mitochondrial disorders can present with autistic features. Most patients will present with multisystem abnormalities associated with autistic behavior. Finding biochemical or structural mitochondrial abnormalities in an autistic child does not necessarily imply a primary mitochondrial disorder but can also be secondary to technical inaccuracies or another genetic disorder. Clinicians should be careful in diagnosing a mitochondrial disorder in an autistic child because it has important implications for accurate genetic counseling, prognosis, and therapy.
自闭症在病因上具有异质性；仅少数病例与医学状况有关，而代谢紊乱则更为罕见。最近，有文章描述了自闭症与线粒体异常之间的关联。我们对当前文献进行了批判性综述，得出结论：线粒体疾病可能是单纯自闭症的罕见且不重要的病因；然而，越来越多的证据表明，常染色体隐性遗传和母系遗传的线粒体疾病都可能表现出自闭症特征。大多数患者会出现与自闭症行为相关的多系统异常。在自闭症儿童中发现生化或结构上的线粒体异常并不一定意味着原发性线粒体疾病，也可能是技术不准确或其他遗传疾病导致的继发性异常。临床医生在诊断自闭症儿童的线粒体疾病时应谨慎，因为这对准确的遗传咨询、预后和治疗具有重要意义。
