Nicolaides P, Leonard J, Surtees R
Institute of Child Health (UCLMS) London, UK.
Arch Dis Child. 1998 Jun;78(6):508-12. doi: 10.1136/adc.78.6.508.
To assess the long term outcome of patients with methylmalonic acidaemia in a cross sectional study.
All 35 patients with methylmalonic acidaemia seen at Great Ormond Street Hospital for Children in London, UK between 1970 and 1996 were studied. They were divided into cobalamin responsive (n = 6) and non-responsive (n = 29), and early and late onset groups.
There was a significant difference between cobalamin responsive and non-responsive groups in severity, survival, and incidence of neurological sequelae. Cobalamin responsive patients had mild disease, irrespective of age at presentation, their neurological complications were less severe, and they are all alive. The cobalamin non-responsive group comprised 19 early and nine late onset patients. The early onset patients had more severe disease at presentation and 14 have died; all late onset patients are alive. There was no significant difference in abnormal neurological signs, although early onset patients had a significantly reduced full scale intelligence quotient and poor cognitive outcome. In both groups, abnormal neurological signs continue to increase with age.
Cobalamin responsive patients have a better long term outcome. The outcome in the non-responsive patients, particularly the early onset group, remains poor and alternative treatments should therefore be considered early in this group.
在一项横断面研究中评估甲基丙二酸血症患者的长期预后。
对1970年至1996年间在英国伦敦大奥蒙德街儿童医院就诊的所有35例甲基丙二酸血症患者进行了研究。他们被分为钴胺素反应型（n = 6）和无反应型（n = 29），以及早发型和晚发型组。
钴胺素反应型和无反应型组在严重程度、生存率和神经后遗症发生率方面存在显著差异。钴胺素反应型患者病情较轻，无论就诊时的年龄如何，其神经并发症较轻，且均存活。钴胺素无反应型组包括19例早发型患者和9例晚发型患者。早发型患者就诊时病情更严重，14例已死亡；所有晚发型患者均存活。神经异常体征无显著差异，尽管早发型患者的全量表智商显著降低且认知结局较差。在两组中，神经异常体征均随年龄增长而持续增加。
钴胺素反应型患者的长期预后较好。无反应型患者，尤其是早发型组的预后仍然较差，因此应尽早考虑对该组患者采用替代治疗。
