Propionic acidemia revisited: A workshop report
Propionic acidemia revisited: A workshop report
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DOI：
10.1177/000992280404300908
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发表时间：
2004-11-01
影响因子：
1.6
通讯作者：
Sperl, W
中科院分区：
文献类型：
--
作者：
Sass, JO;Hofmann, M;Sperl, W
丙酸血症（PA）是最常见的有机酸尿症之一，但个人与PA的结果的信息是相当有限的。我们目前的数据与PA，这是从18个代谢中心在整个中欧的国际研讨会之际收集的49例。所有患者均通过选择性代谢筛查确定，其中86%的患者因在出生后90天内出现临床症状而被归类为早发性PA。死亡率为三分之一，详细的症状和治疗的幸存者进行了讨论。本研究所涉及的各个机构所使用的疾病表型表达和不同治疗策略（特别是蛋白质限制程度）的巨大变化意味着需要对PA患者进行登记，并进行多中心前瞻性治疗研究。
Propionic acidemia (PA) is one of the most frequent organic acidurias, but information on the outcome of individuals with PA is rather limited. We present data of 49 patients with PA, which were gathered from 18 metabolic centers throughout Central Europe on the occasion of an international workshop. All patients were identified by selective metabolic screening, and 86% of them were classified as having early-onset PA owing to their presentation with clinical symptoms within the first 90 days of life. Mortality rate was one third, and details of symptoms and treatment of the surviving patients are discussed. The great variation of phenotypic expression of the disease and different therapeutic strategies (especially in regard to the degree of protein restriction) used at the various institutions involved in this study imply the need for a registry of PA patients and for a multicenter prospective treatment study.