The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.
The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.
复制标题
DOI：
10.1016/j.ymgme.2011.09.032
复制
发表时间：
2012-01
影响因子：
3.8
通讯作者：
Stacpoole, Peter W.
中科院分区：
文献类型：
--
作者：
Patel, Kavi P.;O'Brien, Thomas W.;Subramony, Sankarasubramon H.;Shuster, Jonathan;Stacpoole, Peter W.
关键词：
丙酮酸脱氢酶复合物（PDC）缺乏症是一种遗传性线粒体疾病，通常与乳酸酸中毒，进行性神经和神经肌肉变性，通常在儿童期死亡。最近没有对这种疾病的自然史和临床过程进行全面分析。我们回顾了1970-2010年间发表的371例PDC缺陷病例，这些病例涉及E1α和E1β亚基以及复合物的E1，E2，E3和E3结合蛋白的缺陷。主要通过使用PubMed和Google Scholar搜索引擎确定了英文同行评审出版物。神经发育迟缓和肌张力减退是PDC缺乏症最常见的临床表现。脑结构异常通常包括脑室扩大、胼胝体发育不全和典型的Leigh综合征的神经影像学表现。无论是性别还是任何临床或神经影像学特征都不能区分疾病的各种生化病因。与报告时仍存活的受试者相比，死亡患者更年轻，更早出现临床症状，血乳酸水平更高，残留酶活性更低。生存与潜在的生化或遗传异常或性别无关。虽然PDC缺乏症的临床谱很广，但主要临床表型包括出生后第一年出现的症状;神经和神经肌肉变性;神经影像学显示的结构性病变;乳酸酸中毒和血乳酸盐/丙酮酸盐比值≤20。
Pyruvate dehydrogenase complex (PDC) deficiency is a genetic mitochondrial disorder commonly associated with lactic acidosis, progressive neurological and neuromuscular degeneration and, usually, death during childhood. There has been no recent comprehensive analysis of the natural history and clinical course of this disease. We reviewed 371 cases of PDC deficiency, published between 1970-2010, that involved defects in subunits E1α and E1β and components E1, E2, E3 and the E3 Binding Protein of the complex. English language peer-reviewed publications were identified, primarily by using PubMed and Google Scholar search engines. Neurodevelopmental delay and hypotonia were the commonest clinical signs of PDC deficiency. Structural brain abnormalities frequently included ventriculomegaly, dysgenesis of the corpus callosum and neuroimaging findings typical of Leigh syndrome. Neither gender nor any clinical or neuroimaging feature differentiated the various biochemical etiologies of the disease. Patients who died were younger, presented clinically earlier and had higher blood lactate levels and lower residual enzyme activities than subjects who were still alive at the time of reporting. Survival bore no relationship to the underlying biochemical or genetic abnormality or to gender. Although the clinical spectrum of PDC deficiency is broad, the dominant clinical phenotype includes presentation during the first year of life; neurological and neuromuscular degeneration; structural lesions revealed by neuroimaging; lactic acidosis and a blood lactate:pyruvate ratio ≤20.
登录
查看更多内容
DOI：
10.1097/00005176-199705000-00019
发表时间：
1997-05-01
影响因子：
2.9
作者：
Aptowitzer, I;Saada, A;Elpeleg, ON
通讯作者：
Elpeleg, ON
影响因子：
3.6
作者：
BONNE, G;BENELLI, C;MARSAC, C
通讯作者：
MARSAC, C
影响因子：
5.3
作者：
Brown, RM;Head, RA;Brown, GK
通讯作者：
Brown, GK
影响因子：
4.2
作者：
Benelli, C;Fouque, F;Dey, R
通讯作者：
Dey, R
影响因子：
4.2
作者：
BIRCHMACHIN, MA;SHEPHERD, IM;TURNBULL, DM
通讯作者：
TURNBULL, DM