Neonatal mitochondrial disease / 中国小儿急救医学

ABSTRACT

Mitochondrial disease refers to an energy metabolic disorder caused by dysfunction of oxidative phosphorylation system or pyruvate dehydrogenase complex as a result of mitochondrial DNA or nuclear DNA mutation.It can occur at any age arranging from newborn to adult, which is often presented as clinical syndromes.Common clinical manifestations in neonatal period include premature delivery, intrauterine growth restriction, hypotonia, dyspnea, convulsions, feeding difficulties, hyperlactic acid, etc, lacking of specificity.Neonatal onset syndromes include Leigh syndrome, mitochondrial encephalomyopathy-lactic acidosis and stroke-like episodes syndrome, Alpers syndrome, myocerebrohepatopathy spectrum disorder, Barth syndrome and Pearson syndrome.The diagnosis depends on the comprehensive analysis of clinical symptoms, biochemical tests, neuroimaging, histological tests and genetic tests.In most cases, there are few effective drugs.Gene therapy and exogenous mitochondrial transplantation are the directions of future exploration.