Natural history of propionic acidemia
Natural history of propionic acidemia
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DOI：
10.1016/j.ymgme.2011.09.022
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发表时间：
2012-01-01
影响因子：
3.8
通讯作者：
Summar, Marshall L.
中科院分区：
文献类型：
--
作者：
Pena, Loren;Franks, Jill;Summar, Marshall L.
丙酸血症是一种有机酸血症，如果在急性情况下不适当治疗，可导致代谢性酸中毒、昏迷和死亡。治疗的最新进展使丙酸血症患者能够活过新生儿期和急性期。随着个体年龄的增长，这种疾病的自然史才刚刚开始被阐明。最近的研究已经确定了基因PCCA和PCCB中的基因组突变。然而，至今还没有明确的基因型-表型相关性是已知的。随着患者年龄的增长，丙酸血症的自然进展表明智力障碍，神经系统并发症的风险增加，包括中风样发作，心脏并发症和胃肠道困难，以及许多其他并发症。本文综述了丙酸血症的自然史的可用文献。
Propionic acidemia is an organic acidemia that can lead to metabolic acidosis, coma and death, if not treated appropriately in the acute setting. Recent advancements in treatment have allowed patients with propionic acidemia to live beyond the neonatal period and acute presentation. The natural history of the disease is just beginning to be elucidated as individuals reach older ages. Recent studies have identified the genomic mutations in the genes PCCA and PCCB. However, as of yet no clear genotype-phenotype correlations are known. As patients age, the natural progression of propionic acidemia illuminates intellectual difficulties, increased risk for neurological complications, including stroke-like episodes, cardiac complications, and gastrointestinal difficulties, as well as a number of other complications. This article reviews the available literature for the natural history of propionic acidemia.