Dionisi-Vici Carlo, Deodato Federica, Röschinger Wulf, Rhead William, Wilcken Bridget
Division of Metabolism, Bambino Gesù Children's Hospital, Piazza S. Onofrio 4, I-00165, Rome, Italy.
J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):383-9. doi: 10.1007/s10545-006-0278-z.
'Classical organic acidurias' comprise isovaleric aciduria, propionic aciduria and methylmalonic aciduria. Available data from the literature suggest that the use of 'new' therapeutic strategies has improved survival but has not modified neurodevelopment. Progressive neurocognitive deterioration is almost invariably present in propionic and methylmalonic acidurias, while large-scale studies on the long-term outcome of patients with isovaleric aciduria are still lacking. In order to answer to some of the questions suggested by Wilson and Jungner in 1968 about the criteria of disease screening, we compared the natural history of patients with 'classical' organic acidurias diagnosed on clinical bases to those diagnosed through neonatal mass screening using tandem mass spectrometry. Decreased early mortality, less severe symptoms at diagnosis, and more favourable short-term neurodevelopmental outcome were recorded in patients identified through expanded newborn screening. The short duration of follow-up so far does not allow us to draw final conclusions about the effects of newborn screening on long-term outcome. The evaluation of the effect of neonatal screening on the detection rate of these three diseases showed that the incidence of isovaleric aciduria was significantly higher in the screening population than in clinically detected cases, with no changes for propionic and methylmalonic acidurias. Further multicentre longitudinal studies are needed to assess the usefulness of expanded newborn screening for 'classical' organic acidurias and to better understand the clinical spectrum of these diseases. This paper describes the long-term outcome and the impact of expanded newborn screening on the so-called 'classical' organic acidurias (propionic aciduria, methylmalonic aciduria and isovaleric aciduria).
“经典有机酸血症”包括异戊酸血症、丙酸血症和甲基丙二酸血症。文献中的现有数据表明，“新”治疗策略的使用提高了生存率，但并未改变神经发育情况。进行性神经认知功能衰退在丙酸血症和甲基丙二酸血症中几乎总是存在，而异戊酸血症患者长期预后的大规模研究仍很缺乏。为了回答威尔逊和荣格纳在1968年提出的关于疾病筛查标准的一些问题，我们比较了临床诊断的“经典”有机酸血症患者与通过串联质谱新生儿群体筛查诊断的患者的自然病史。通过扩大新生儿筛查确诊的患者早期死亡率降低、诊断时症状较轻且短期神经发育结局更有利。目前随访时间较短，我们无法就新生儿筛查对长期结局的影响得出最终结论。对新生儿筛查对这三种疾病检出率影响的评估表明，筛查人群中异戊酸血症的发病率显著高于临床确诊病例，而丙酸血症和甲基丙二酸血症则无变化。需要进一步的多中心纵向研究来评估扩大新生儿筛查对“经典”有机酸血症的有效性，并更好地了解这些疾病的临床谱。本文描述了长期结局以及扩大新生儿筛查对所谓“经典”有机酸血症（丙酸血症、甲基丙二酸血症和异戊酸血症）的影响。
