Metabolic disorders of fetal life: Glycogenoses and mitochondrial defects of the mitochondrial respiratory chain
Metabolic disorders of fetal life: Glycogenoses and mitochondrial defects of the mitochondrial respiratory chain
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DOI：
10.1016/j.siny.2011.04.010
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发表时间：
2011-08-01
影响因子：
3
通讯作者：
Garone, C.
中科院分区：
文献类型：
--
作者：
DiMauro, S.;Garone, C.
两大类先天性的能量代谢缺陷进行审查-糖原和线粒体呼吸链缺陷，看看这些疾病在胎儿期或胎儿期出现的频率。在对人类婴儿出生前和出生后发育中的能量代谢进行了一些一般性考虑之后，调查了不同的糖原累积病和线粒体脑肌病。总的结论是：（i）糖原代谢紊乱比呼吸链缺陷更可能引起“胎儿疾病”：（ii）线粒体脑肌病，特别是那些由于核基因组缺陷引起的线粒体脑肌病，是新生儿或婴儿疾病的常见原因，典型的是Leigh综合征，但通常不引起胎儿窘迫;（iii）值得注意的例外包括导致GRACILE综合征的复合物III组装基因BCS 1 L中的突变（生长迟缓、氨基酸尿、胆汁淤积、铁超载、乳酸中毒和早死）和线粒体蛋白质合成缺陷，这些是线粒体转化研究的“新前沿”。(C)2011年由Elsevier Ltd.出版
Two major groups of inborn errors of energy metabolism are reviewed -glycogenoses and defects of the mitochondrial respiratory chain to see how often these disorders present in fetal life or neonatally. After some general considerations on energy metabolism in the pre- and postnatal development of the human infant, different glycogen storage diseases and mitochondrial encephalomyopathies are surveyed. General conclusions are that: (i) disorders of glycogen metabolism are more likely to cause 'fetal disease' than defects of the respiratory chain: (ii) mitochondrial encephalomyopathies, especially those due to defects of the nuclear genome, are frequent causes of neonatal or infantile diseases, typically Leigh syndrome, but usually do not cause fetal distress; (iii) notable exceptions include mutations in the complex III assembly gene BCS1L resulting in the GRACILE syndrome (growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death), and defects of mitochondrial protein synthesis, which are the 'new frontier' in mitochondrial translational research. (C) 2011 Published by Elsevier Ltd.