Department of Neurology, Columbia University Medical Center, New York, NY, USA.
Semin Fetal Neonatal Med. 2011 Aug;16(4):181-9. doi: 10.1016/j.siny.2011.04.010. Epub 2011 May 28.
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.
我们回顾了两类主要的先天性能量代谢错误——糖原贮积症和线粒体呼吸链缺陷——以了解这些疾病在胎儿期或新生儿期的发病频率。在对人类婴儿出生前后的能量代谢进行了一些一般性考虑之后，我们研究了不同的糖原贮积症和线粒体脑肌病。得出的一般结论是：（i）糖原代谢紊乱比呼吸链缺陷更有可能导致“胎儿疾病”；（ii）线粒体脑肌病，尤其是那些由核基因组缺陷引起的疾病，是新生儿或婴儿疾病的常见原因，通常是 Leigh 综合征，但通常不会导致胎儿窘迫；（iii）值得注意的例外包括复合物 III 组装基因 BCS1L 的突变导致的 GRACILE 综合征（生长迟缓、氨基酸尿症、胆汁淤积、铁过载、乳酸性酸中毒和早期死亡），以及线粒体蛋白合成缺陷，这是线粒体翻译研究的“新前沿”。
