Hoffmann G F, Gibson K M, Trefz F K, Nyhan W L, Bremer H J, Rating D
Abteilung für Pädiatrie, Universitäts-Kinderklinik Heidelberg, Germany.
Eur J Pediatr. 1994;153(7 Suppl 1):S94-100. doi: 10.1007/BF02138786.
Neurological manifestations are very common and can be the leading and/or presenting feature in organic acid disorders, sometimes in the absence of metabolic derangement. Review of the time course and presentation of neurological disease in organic acid disorders reveals characteristic clinical findings of ataxia, myoclonus, extrapyramidal symptoms, metabolic stroke and megalencephaly. A group of organic acid disorders presents exclusively with neurological symptoms. These include glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I), succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria), mevalonic aciduria, N-acetylaspartic aciduria (Canavan disease) and L-2-hydroxyglutaric aciduria. As a group these "cerebral" organic acid disorders appear to remain often undiagnosed and their true incidence is much less well-known than that of the "classical" organic acid disorders. Unfortunately, stringent guidelines for a clinical preselection of neuropaediatric patients to be investigated for organic acid disorders cannot be provided. Today, screening for neurometabolic disorders should be as comprehensive as possible and include determinations of amino acids, purines and pyrimidines and markers of peroxisomal function in addition to organic acid analysis.
神经学表现非常常见，并且可能是有机酸血症中的主要和/或首发特征，有时在没有代谢紊乱的情况下也会出现。回顾有机酸血症中神经疾病的病程和表现，可发现共济失调、肌阵挛、锥体外系症状、代谢性中风和巨头症等特征性临床表现。一组有机酸血症仅表现为神经症状。这些包括戊二酰辅酶A脱氢酶缺乏症（I型戊二酸尿症）、琥珀半醛脱氢酶缺乏症（4-羟基丁酸尿症）、甲羟戊酸尿症、N-乙酰天冬氨酸尿症（卡纳万病）和L-2-羟基戊二酸尿症。作为一个整体，这些“脑部”有机酸血症似乎常常未被诊断出来，其真实发病率远不如“经典”有机酸血症那样为人所知。不幸的是，无法提供针对有待进行有机酸血症检查的神经儿科患者进行临床预筛选的严格指导原则。如今，对神经代谢疾病的筛查应尽可能全面，除了有机酸分析外，还应包括氨基酸、嘌呤和嘧啶的测定以及过氧化物酶体功能标志物的检测。
