Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.
J Inherit Metab Dis. 2012 Sep;35(5):797-806. doi: 10.1007/s10545-011-9426-1. Epub 2012 Jan 17.
Recurrent, life-threatening metabolic decompensations often occur in patients with methylmalonic aciduria (MMAuria). Our study evaluated (impending) metabolic decompensations in these patients aiming to identify the most frequent and reliable clinical and biochemical abnormalities that could be helpful for decision-making on when to start an emergency treatment. Seventy-six unscheduled and 179 regular visits of 10 patients with confirmed MMAuria continuously followed by our metabolic centre between 1975 and 2009 were analysed. The most frequent symptom of an impending acute metabolic decompensation was vomiting (90% of episodes), whereas symptoms of intercurrent infectious disease (29%) or other symptoms (such as food refusal and impaired consciousness) were found less often. Thirty-five biochemical parameters were included in the analysis. Among them, pathological changes of acid-base balance reflecting metabolic acidosis with partial respiratory compensation (decreased pH, pCO(2), standard bicarbonate, and base excess) and elevated ammonia were the most reliable biochemical parameters for the identification of a metabolic decompensation and the estimation of its severity. In contrast, analyses of organic acids, acylcarnitines and carnitine status were less discriminative. In conclusion, careful history taking and identification of suspicious symptoms in combination with a small number of rapidly available biochemical parameters are helpful to differentiate compensated metabolic condition and (impending) metabolic crisis and to decide when to start an emergency treatment.
反复发作、危及生命的代谢失代偿在甲基丙二酸血症（MMAuria）患者中经常发生。我们的研究旨在评估这些患者的（即将发生的）代谢失代偿，以确定最常见和最可靠的临床和生化异常，这有助于决定何时开始紧急治疗。对 1975 年至 2009 年间在我们的代谢中心连续随访的 10 例确诊 MMAuria 患者的 76 次非计划就诊和 179 次常规就诊进行了分析。即将发生急性代谢失代偿的最常见症状是呕吐（90%的发作），而与并发传染病（29%）或其他症状（如拒食和意识障碍）相关的症状则较少见。分析中包括 35 个生化参数。其中，反映代谢性酸中毒伴部分呼吸代偿的酸碱平衡的病理性变化（pH、pCO2、标准碳酸氢盐和碱剩余降低）和血氨升高是识别代谢失代偿和估计其严重程度的最可靠生化参数。相比之下，有机酸、酰基肉碱和肉碱状态的分析则不太具有鉴别力。总之，仔细的病史采集和可疑症状的识别，结合少数快速获得的生化参数，有助于区分代偿性代谢状态和（即将发生的）代谢危机，并决定何时开始紧急治疗。
