Breningstall G N
Department of Pediatrics (Neurology), Park Nicollet Medical Center, Minneapolis, Minnesota.
Pediatr Neurol. 1993 Mar-Apr;9(2):81-90. doi: 10.1016/0887-8994(93)90041-a.
Mitochondrial oxidation of a variety of substrates produces the bulk of energy requirements for most cell types. Impairment of oxidative metabolism may result in a broad spectrum of clinical signs and symptoms. A disorder of oxidative metabolism should be suspected when an unexplained association of signs and symptoms occurs, particularly when it is progressive, involving organs with no common embryologic origin. Encephalopathy and myopathy are a particularly suspect combination. Numerous specific disorders affect oxidative metabolism. Lactate elevation frequently occurs and additional laboratory abnormalities often assist in focusing investigation. Diagnostic specificity may require, in addition to the blood and urine studies, tissue sampling, cerebral imaging, in vivo studies of tissue energetics, or molecular genetic analysis.
多种底物的线粒体氧化作用为大多数细胞类型提供了大部分能量需求。氧化代谢受损可能导致广泛的临床体征和症状。当出现无法解释的体征和症状关联，尤其是呈进行性且累及无共同胚胎学起源的器官时，应怀疑存在氧化代谢障碍。脑病和肌病是特别值得怀疑的组合。许多特定疾病会影响氧化代谢。乳酸水平经常升高，其他实验室异常情况通常有助于集中调查。除了血液和尿液研究外，诊断特异性可能还需要组织采样、脑部成像、组织能量学的体内研究或分子遗传学分析。
